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Charcot-Marie-Tooth Neuropathy Type 4C

Synonyms: Charcot-Marie-Tooth Disease Type 4C, CMT4C

, PhD, , MD, PhD, and , MD, Dr Med Sci, FRCPCH, FAAN.

Author Information

Initial Posting: ; Last Update: October 15, 2015.

Estimated reading time: 21 minutes


Clinical characteristics.

Charcot-Marie-Tooth neuropathy type 4C (CMT4C) is a demyelinating neuropathy characterized by early-onset severe spine deformities. The majority of affected children present with scoliosis or kyphoscoliosis between ages two and ten years, although earlier and later onset are observed. Slowly progressive neuropathy usually manifests in the first decade or adolescence, and occasionally earlier or later. Foot deformities (pes cavus, pes planus, or pes valgus) are common.


Diagnosis is based on clinical findings, the results of motor nerve conduction velocity testing, and molecular genetic testing of SH3TC2, the only gene in which pathogenic variants are known to cause CMT4C. Because the diagnosis of CMT4C is defined by the presence of biallelic SH3TC2 pathogenic variants, all individuals with CMT4C have pathogenic variants in this gene.


Treatment of manifestations: Treatment of spinal deformities includes physiotherapy to preserve flexibility, bracing, and/or surgery, even at a young age. Treatment of foot deformities includes special shoes with good ankle support and/or ankle/foot orthoses (AFOs) to correct foot drop and aid walking, and in some cases surgery; associated pain and cramps may require medication.

Prevention of secondary complications: Daily heel cord stretching exercises and physical activity may help prevent contractures.

Surveillance: Monitor for onset and/or progression of scoliosis and changes in hand function and foot strength.

Agents/circumstances to avoid: Obesity; drugs and medications known to cause nerve damage (e.g., vincristine, isoniazid, taxol, cisplatin, nitrofurantoin).

Pregnancy management: Symptoms of CMT can worsen during pregnancy; some studies suggest that women with CMT require more interventions during delivery (possibly secondary to an increased incidence of abnormal fetal presentation) and may be at increased risk for postpartum bleeding.

Other: Career and employment may be influenced by hand and/or foot weakness.

Genetic counseling.

CMT4C is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for at-risk pregnancies are possible if both pathogenic variants have been identified in the family.


Suggestive Findings

Charcot-Marie-Tooth neuropathy type 4C (CMT4C) should be suspected in individuals with the following clinical manifestations, nerve conduction velocities, neuropathology, and family history:

Clinical manifestations

  • Early and severe scoliosis, the presenting sign in most individuals [Kessali et al 1997, Gabreëls-Festen et al 1999, Azzedine et al 2006]
  • Neuropathy that usually develops in the first decade or adolescence, but occasionally manifests as delay in onset of independent ambulation in early childhood
  • Slowly progressive neuropathy, with some individuals becoming wheelchair dependent because of involvement of the proximal lower limbs

Motor nerve conduction velocities (MNCV) that are in the range observed in demyelinating disease:

  • MNCV of the median nerve is typically 4-37 m/sec, with a mean of 22 m/sec.
  • MNCV is not correlated with disease duration.
  • In some cases, electroneuromyographic examination is incomplete or does not allow measurement of MNCVs because of the severity of the secondary axonal loss.

Neuropathology. Nerve biopsies show a combination of morphologic features unique among the demyelinating forms of CMT [Kessali et al 1997, Gabreëls-Festen et al 1999, Gooding et al 2005], including the following:

  • Loss of myelinated fibers
  • Relatively few and small classic onion bulbs, as observed in CMT1A
  • Basal membrane onion bulbs, consisting of concentric Schwann cell lamellae intermingled with single or double basal membranes or concentric basal membranes alone
  • Schwann cells of unmyelinated axons, often with very thin processes and connecting links between axons

Family history consistent with autosomal recessive inheritance (includes simplex cases, i.e., a single occurrence in a family)

Establishing the Diagnosis

The diagnosis of CMT4C is established in a proband with early and severe scoliosis, slowly progressive neuropathy, slow nerve conduction velocities, and biallelic pathogenic variants in SH3TC2 (previously known as KIAA1985) [Senderek et al 2003] (see Table 1).

Molecular testing approaches can include serial single-gene testing, use of a multigene panel, and more comprehensive genomic testing.

Serial single-gene testing can be considered based on the order in which pathogenic variants most commonly occur in individuals with the above suggestive findings:

A multigene panel that includes SH3TC2 and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.

For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

More comprehensive genomic testing (when available) including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered if serial single-gene testing (and/or use of a multigene panel) fails to confirm a diagnosis in an individual with features of CMT4C. For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Table 1.

Molecular Genetic Testing Used in Charcot-Marie-Tooth Neuropathy Type 4C

Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
SH3TC2Sequence analysis 3100% 4
Gene-targeted deletion/duplication analysis 5None reported 6

See Molecular Genetics for information on allelic variants detected in this gene.


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Because this disorder is defined by the presence of biallelic pathogenic variants in the associated gene, the variant detection rate is 100% for pathogenic variants detectable through sequence analysis.


Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.


No deletions or duplications involving SH3TC2 have been reported to cause Charcot-Marie-Tooth neuropathy type 4C.

Clinical Characteristics

Clinical Description

Charcot-Marie-Tooth neuropathy type 4C (CMT4C) is a demyelinating neuropathy characterized by early-onset severe scoliosis. Scoliosis as well as foot deformities were the presenting findings in most individuals with CMT4C.

Spine deformities (scoliosis or kyphoscoliosis) were observed between ages two and ten years in most cases [Kessali et al 1997, Gabreëls-Festen et al 1999], or more rarely, early in the second decade [Senderek et al 2003]. However, the disease may start at birth or much later: onset at age 37 years was reported in one individual [Colomer et al 2006].

Cumulative data indicate that scoliosis occurs in 73% of persons with CMT4C (Table 2). In some cases the spine deformities are moderate; in others they are disabling. The curvature progressed three to five degrees annually and required surgery in 7% to 39% of reported cases (Table 2) [Kessali et al 1997, Gabreëls-Festen et al 1999].

Foot deformities (pes cavus, pes planus, or pes valgus) were reported in 72% to 100% of affected individuals [Senderek et al 2003, Azzedine et al 2006, Colomer et al 2006]. Foot deformities were first observed between ages two and ten years, were moderately or severely disabling, and required surgery in 6% (1/18) to 11% (3/28) of cases (Table 2).

Table 2.

Occurrence of Manifestations of CMT4C by Study

Study FindingStudy (Total Patients)
Azzedine et al [2006]
Colomer et al [2006]
Senderek et al [2003]
Houlden et al [2009]
Baets et al [2011]
Laššuthová et al [2011]
Yger et al [2012]
Fischer et al [2012]
Cumulative Data
Age at onset1st symptoms2-104-39Infancy-121-16<11-121-12ND1-16
Age at (last) exam (yrs)5-458-4511-568-42NDND8-595-59
Foot deformityPes cavus20/2814/14 18/18YesND13/1512/14ND
Pes planus7/284/18YesNDnonoND
Pes valgus1/28NDNDNDno3/14ND
OtherNoHammer toes 8/18Small feetNDHammer toesnoND
Total28/2814/1413/18 26/6 17/914/1514/14ND96/104 (92%)
Age at onset (yrs)2-10No data2-12NDNDND1,12 3ND1-12
Surgery3/28None1/13NoND9/144/14ND17/69 (24%)
Spine deformityTotal27/285/14 411/18 46/66/910/1212/125/682/105 (78%)
Age at onset (yrs)2-1044-12 5ND2, 6, 7, 12 6ND7-15ND2-15
Surgery7 + 6 8 = 13/271/141/113/63/6ND1/12ND22/76 (29%)

ND = not done or not documented


Authors did not specify type of deformities.


Authors did not specify the foot deformity in the one patient who had surgery.


Unknown for 12 of 14 patients


Authors did not indicate whether they evaluated for kyphoscoliosis and/or lordosis.


Onset of scoliosis in infancy; age not reported

6.Age documented in 4 patients only


Other. No data are available on cramps and pain in individuals with CMT4C. In general, cramps and pain are common in all forms of CMT, occurring in 56 to 96% of affected individuals, according to different studies [Carter et al 1998, Abresch et al 2002, Tiffreau et al 2006, Padua et al 2008]. Cramps are usually present from the onset, whereas pain may develop as the disease progresses.

Hypoacousis (slightly diminished auditory sensitivity) was reported in 15/103 persons with CMT4C and deafness (significant reduction of auditory sensitivity) in 12/103 persons. The cumulative data from the literature showed that hypoacousis and deafness were each present in approximately 11.5% and 14.5% of individuals, respectively (Table 3). For more detailed discussion of hearing loss in general, see Deafness and Hereditary Hearing Loss Overview.

Nystagmus was reported in 2/18 persons with CMT4C [Senderek et al 2003].

Pupillary light reflexes, facial paresis, hypoventilation/respiratory insufficiency, lingual fasciculation, head tremor, sensory ataxia, and diabetes mellitus were also reported (Table 3). The cumulative data from the literature showed that respiratory problems occurred in approximately 18% and cranial nerve involvement in 45% of individuals with CMT4C (Table 3).

Table 3.

Additional Clinical Findings in CMT4C by Study

Clinical FindingStudy (Total Patients)
Azzedine et al [2006]
Colomer et al [2006]
Senderek et al [2003]
Houlden et al [2009]
Baets et al [2011]
Laššuthová et al [2011]
Yger et al [2012]
Cumulative Data
Pupillary light reflexes0/283/140/181/60/90/1514/134/20
Other pupillary disturbances------Asymmetric size 1/6------1/6
Lingual fasciculation--3/14----------3/14
Tongue atrophy and/or weakness------1/6----2/133/19
Facial paresis1/28----1/61/9--4/137/56
Facial weakness------1/6------1/6
Head tremor--2/14----------2/14
Vocal cord involvement------------1/131/13
Total patients w/cranial nerve involvement5/289/145/14 14/6----10/1333/73
Respiratory insufficiency or hypoventilation7/28 2--2/18--1/9----10/55
Sensory ataxia1/282/14---------->3/42 3
Diabetes mellitus----1/18--------1/18
Romberg sign--2/14----------2/14

14 of 18 patients were examined for cranial nerve involvement.


Kessali et al [1997] reported that 7/11 persons required spine surgery because the severity of their deformities caused difficulty in sitting and pulmonary restriction.


Gabreëls-Festen et al [1999] reported mild sensory ataxia in some individuals, without indicating the number of cases.

Pregnancy. See Management, Pregnancy Management.

Genotype-Phenotype Correlations

Significant intrafamilial variability in the disease course makes it difficult to identify genotype-phenotype correlations [Kessali et al 1997, Gabreëls-Festen et al 1999, Senderek et al 2003, Azzedine et al 2005a, Azzedine et al 2005b, Azzedine et al 2006].


CMT4C (caused by biallelic pathogenic variants in SH3TC2) is a relatively frequent cause of the autosomal recessive demyelinating neuropathy CMT4. On the basis of the cumulative data, the prevalence of CMT4C among those with CMT4 is approximately 18% (53/299) [Senderek et al 2003, Azzedine et al 2006, Houlden et al 2009, Fischer et al 2012, Iguchi et al 2013]. (See CMT Overview.)

Pathogenic variants in SH3TC2 have been found in individuals of diverse geographic origins (Algeria, Morocco, France, Belgium, England, the Netherlands, Germany, Austria, Italy, Bosnia, Czech, Greece, Turkey, Iran, Japan, and Canada) and diverse ethnic origins (gypsies from Spain and Turkey) [LeGuern et al 1996, Gabreëls-Festen et al 1999, Guilbot et al 1999, Senderek et al 2003, Azzedine et al 2005a, Azzedine et al 2005b, Azzedine et al 2006, Colomer et al 2006, Houlden et al 2009, Baets et al 2011, Fischer et al 2012].

Differential Diagnosis

See CMT Overview for discussion of approaches to diagnosis of other autosomal recessive disorders with peripheral neuropathy. Guidelines for genetic testing of individuals suspected of having a neuromuscular condition, such as CMT, have been published by Burgunder et al [2011] and Murphy et al [2012].

Baets et al [2011] reviewed the genetic spectrum of hereditary neuropathies presenting in the first year of life. Besides CMT4C, the most common disorders are the CMT4 subtypes CMT4B2 (SBF2), CMT4F (PRX), and CMT4H (FGD4). However, these subtypes occur at a low frequency compared to CMT as a whole.

CMT4A/2H is an autosomal recessive axonal, demyelinating or mixed (RI-CMTA) sensory and motor peripheral neuropathy due most often to biallelic pathogenic variants in GDAP1 [Nelis et al 2002, Birouk et al 2003, Bouhouche et al 2007]. In a few studies, single heterozygous pathogenic variants in GDAP1 were found to be inherited in an autosomal dominant manner (CMT2K) [Claramunt et al 2005]. CMT4A/2H is one of the most frequent autosomal recessive forms of CMT [Author, personal observation]. See CMT4A.

CMT1E. Autosomal recessive inheritance of severe neuropathy has also been reported with biallelic pathogenic variants in PMP22, in which heterozygous pathogenic variants typically cause the autosomal dominant CMT1 phenotype.

CMT1X, caused by hemizygous pathogenic variants in GJB1 (Cx32), is characterized by a moderate to severe motor and sensory neuropathy in affected males and usually mild to no symptoms in heterozygous females. Sensorineural deafness and central nervous system symptoms also occur in some families. Unlike CMT4C, CMT1X is inherited in an X-linked manner.

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum, an autosomal recessive severe sensorimotor neuropathy with intellectual disability and agenesis of the corpus callosum has been reported in individuals from Quebec. It is caused by pathogenic variants in SLC12A6 (former names: ACCPN, KCC3), the gene encoding the K-Cl cotransporter [Howard et al 2002].

Other unclassified autosomal recessive neuropathies

  • SURF1. Three individuals from consanguineous families with childhood-onset demyelinating motor/sensory neuropathy associated with nystagmus, lactic acidosis, hyperintense lesions in the putamen on T1-weighted MRI, and later development of cerebellar ataxia had deficiency of COX activity in muscle fibers associated with SURF1 homozygous or compound heterozygous pathogenic variants [Echaniz-Laguna et al 2013]. Mutation of SURF1 has also been associated with Leigh syndrome.
  • TRIM2. Compound heterozygous pathogenic variants have been reported in a female with childhood-onset axonal and demyelinating neuropathy with low weight and small muscle mass [Ylikallio et al 2013]. Nerve biopsy showed enlarged myelinated fibers with increased density of neurofilaments. TRIM2 is an E3 ubiquitin ligase.
  • HINT1. Loss-of-function pathogenic variants cause a motor (greater than sensory) axonal neuropathy with neuromyotonia (spontaneous high-frequency motor unit potentials on EMG) [Zimoń et al 2012]. Hahn et al [1991] described the clinical details of this disease including muscle cramping, twitching, and distal weakness.


Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Charcot-Marie-Tooth neuropathy type 4C (CMT4C), the following evaluations are recommended:

  • Examination by a child neurologist to evaluate for weakness and atrophy, gait stability, sensory loss, and other associated signs. It is important to distinguish between neuropathic pain and mechanical pain.
  • Examination by a pediatric orthopedist to assess the amount and progression of spinal curvature and to determine the extent of foot deformities
  • Examination by an otolaryngologist and/or ophthalmologist if problems with hearing or vision are present
  • Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

Treatment is symptomatic. Affected individuals are often managed by a multidisciplinary team that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. See Grandis & Shy [2005] for a discussion of general treatment for CMT.

Spinal deformities

  • Physiotherapy helps to preserve flexibility.
  • If the curvature can be reduced with bracing, either a plaster or a thermo-molded plastic corset can be used.
  • If bracing and physiotherapy together are not sufficient to correct the scoliosis, surgery can be performed at an early age, even before the end of linear growth (Table 2) [Kessali et al 1997, Gabreëls-Festen et al 1999]. Surgical intervention requires consensus among the family, child (if possible), and attending physicians.

Foot deformities

Pain and cramps

  • Neuropathic pain can be treated with antiepileptic drugs (AEDs) (e.g., pregabalin, gabapentin).
  • Mechanical pain can generally be managed with a combination of physiotherapy and orthopedic treatment.
  • Cramps can be controlled with quinine. However, quinine is known to induce tinnitus and reversible high-tone hearing loss.


  • Some individuals require forearm crutches or canes for gait stability; some need wheelchairs.
  • Exercise to help the individual remain physically active according to his/her abilities is encouraged.

Prevention of Secondary Complications

Daily heel cord stretching exercises help prevent Achilles' tendon shortening.

Physical activity (e.g., swimming, bicycling, stretching) adapted to the abilities of each individual by a physiotherapist is useful to prevent contractures.

Individuals with diabetes mellitus need excellent foot care to avoid foot ulceration and necrosis.


Scoliosis needs to be closely followed. Monitoring four times a year is recommended.

Hand function and foot strength should be evaluated by an orthopedist every six months starting from the date of diagnosis.

Agents/Circumstances to Avoid

Obesity is to be avoided because it makes walking more difficult.

Medications which are toxic or potentially toxic to persons with CMT comprise a range of risks ranging from definite high risk to negligible risk. See the Charcot-Marie-Tooth Association website (pdf) for an up-to-date list.

Evaluation of Relatives at Risk

It is appropriate to evaluate apparently asymptomatic older and younger sibs of an affected individual in order to identify as early as possible those who would benefit from initiation of preventive measures. Evaluations can include:

  • Molecular genetic testing if the pathogenic variants in the family are known;
  • Consideration of motor nerve conduction velocities and nerve biopsy if the pathogenic variants in the family are not known.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Pregnancy Management

CMT appears to be an independent risk factor for complications during pregnancy and delivery.

  • The symptoms of CMT can worsen during pregnancy; in particular: cramps, subjective sensitivity (e.g., paresthesias), difficulty walking, and fatigue.
  • In rare cases, crises occurring during pregnancy do not subside post partum.
  • A retrospective study in Norway between 1967 and 2002 comparing 108 births to mothers with CMT with 2.1 million births to mothers without CMT determined that mothers with CMT more frequently needed interventions during delivery [Hoff et al 2005]. Bleeding post partum was also more common in mothers with CMT.
  • It has been postulated that fetal presentation tends to be abnormal because of the combination of CMT in the mother and fetus [Rayl et al 1996, Hoff et al 2005].

Therapies Under Investigation

See Grandis & Shy [2005].

Search in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder


Career and employment may be influenced by persistent weakness of hands and/or feet.

Anesthesia. Relatively few studies reported in the literature address risks of anesthesia in patients with CMT. No complications were observed after anesthesia in a large cohort followed in specialized consultation, but the advice of the anesthesiologist should be followed.

  • Although it had no adverse effects in 41 persons with CMT [Antognini 1992], use of succinylcholine for general anesthesia is usually contraindicated.
  • Blockers of the neuromuscular junction should be used with caution.
  • Local-regional anesthesia, especially epidural analgesia at child birth, has been used without problems in CMT. This use of anesthesia should be discussed on a case-by-case basis with the anesthesiologist.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members; it is not meant to address all personal, cultural, or ethical issues that may arise or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Charcot-Marie-Tooth neuropathy type 4C (CMT4C) is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected individual are obligate heterozygotes (i.e., carriers of one SH3TC2 pathogenic variant).
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Sibs of a proband

  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier of a SH3TC2 pathogenic variant is 2/3.
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Offspring of a proband. The offspring of an individual with CMT4C are obligate heterozygotes (carriers) for an SH3TC2 pathogenic variant.

Other family members of a proband. Each sib of the proband's parents is at a 50% risk of being a carrier of a SH3TC2 pathogenic variant

Carrier (Heterozygotes) Detection

Carrier testing for at-risk relatives requires prior identification of the SH3TC2 pathogenic variants in the family.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Testing

Once the SH3TC2 pathogenic variants have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for CMT4C are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. While most centers would consider decisions regarding prenatal testing to be the choice of the parents, discussion of these issues is appropriate.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • Charcot-Marie-Tooth Association (CMTA)
    PO Box 105
    Glenolden PA 19036
    Phone: 800-606-2682 (toll-free); 610-499-9264
    Fax: 610-499-9267
  • European Charcot-Marie-Tooth Consortium
    Department of Molecular Genetics
    University of Antwerp
    Antwerp Antwerpen B-2610
    Fax: 03 2651002
  • Hereditary Neuropathy Foundation
    Phone: 855-435-7268 (toll-free); 212-722-8396
    Fax: 917-591-2758
  • My46 Trait Profile
  • NCBI Genes and Disease
    Institute of Translational and Clinical Research
    University of Newcastle upon Tyne
    International Centre for Life
    Newcastle upon Tyne NE1 3BZ
    United Kingdom
    Phone: 44 (0)191 241 8617
    Fax: 44 (0)191 241 8770
  • Association Francaise contre les Myopathies (AFM)
    1 Rue de l'International
    Evry cedex 91002
    Phone: +33 01 69 47 28 28
  • European Neuromuscular Centre (ENMC)
    Lt Gen van Heutszlaan 6
    3743 JN Baarn
    Phone: 31 35 5480481
    Fax: 31 35 5480499
  • Muscular Dystrophy Association (MDA) - USA
    161 North Clark
    Suite 3550
    Chicago IL 60601
    Phone: 800-572-1717
  • Muscular Dystrophy UK
    61A Great Suffolk Street
    London SE1 0BU
    United Kingdom
    Phone: 0800 652 6352 (toll-free); 020 7803 4800
  • RDCRN Patient Contact Registry: Inherited Neuropathies Consortium

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Charcot-Marie-Tooth Neuropathy Type 4C: Genes and Databases

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Charcot-Marie-Tooth Neuropathy Type 4C (View All in OMIM)


Gene structure. The normal gene comprises 17 coding exons spanning 62 kb of genomic sequence. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. To date, more than 60 pathogenic variants including numerous nonsense, frameshift, and splice site variants have been reported [Senderek et al 2003, Azzedine et al 2005a, Azzedine et al 2005b, Azzedine et al 2006, Colomer et al 2006,Houlden et al 2009, Baets et al 2011, Laššuthová et al 2011, Fischer et la 2012, Yger et al 2012] (see Table 4).

Table 4.

Select SH3TC2 Pathogenic Variants Relevant to This GeneReview

DNA Nucleotide Change
(Alias 1)
Predicted Protein Change
(Alias 1)
Reference Sequences
c.530-2A>G-- 2
c.1178-1G>A-- 2

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​ See Quick Reference for an explanation of nomenclature.

For frameshift variants, "Ter#" indicates the codon position in the new reading frame that ends in a stop (Ter). The position of the stop in the new reading frame is calculated starting at the first changed amino acid that is created by the frameshift (e.g., p.Glu10Ser) and ending at the first stop codon (Ter#), e.g., p.Glu10SerfsTer4). The shifted reading frame is thus open for "#-1" amino acids (thus in p.Glu10SerfsTer4, the new reading frame is open for three more codons, therefore terminating at codon 13).


Variant designation that does not conform to current naming conventions


Because the splice donor or splice acceptor site is changed, the change is expected to affect splicing (the nomenclature designation is r.spl?).

Normal gene product. The protein, known as the SH3 domain and tetratricopeptide repeats containing protein 2 (SH3TC2), comprises 1,287 amino acids. The SH3TC2 protein has been reported to contain Src homology-3 (SH3) domains and tetratricopeptide repeat (TPR) domains; however, the predicted number and location of these domains varies [Roberts et al 2010].

SH3 domains are highly conserved in eukaryotes, prokaryotes, and viruses, and mediate interactions with enzymes (tyrosine kinases, phospholipases cγ1 [PLCγ1] and PLCγ2, phosphoinositide 3-kinase and the NADPH-oxidase complex), cytoskeleton molecules (spectrin and nebulin), and myosins. They play important roles in cell-cell communication and signal transduction from the cell surface to the nucleus [Whisstock & Lesk 1999].Proteins with TPR domains are involved in many cellular processes through protein-protein interactions: in mitosis and RNA synthesis by their association in multiprotein complexes controlling cell-cycle or transcription machinery, in protein transport, and in chaperon functions [Blatch & Lassle 1999]. The spectrum of possible functions mediated by the TPR and SH3 domains is therefore large.

Studies in the knockout mouse model have demonstrated that Sh3tc2 is required for normal myelination in the peripheral nerve [Arnaud et al 2009]. The localization of Sh3tc2 protein Schwann cells in mouse (at the plasma membrane and endocytic recycling compartment) and rat (to intracellular tubulo-vesicular structures concentrated near the nucleus but distributed throughout the cell) are consistent with loss of Sh3tc2 resulting in a demyelinating neuropathy [Arnaud et al 2009, Roberts et al 2010]. Studies of truncated proteins in HeLa cells demonstrated that proteins truncated for the first 100 amino acids preceding the SH3 domain or the last 200 amino acids following the last TPR domain are sufficient to delocalize the protein from the recycling endosome so that the protein remains cytosolic.

SH3TC2 protein binds to the active form of the small GTPase Rab11, a protein that regulates the recycling of internalized proteins and membrane back to the surface, but not with Rab5, an early endosome GTPase. The authors suggest that SH3TC2 is a Rab11 effector involved in endocytic protein recycling regulation [Roberts et al 2010]. More recently, Gouttenoire et al [2013] demonstrated that SH3TC2 interacts via its N-terminal region with ErbB2 (receptor tyrosine-protein kinase) and interferes with its intracellular trafficking from the plasma membrane on neuronal neuregulin 1 (Nrg1) activation. Interestingly, SH3 and TPR domains do not interfere in such interaction.

Abnormal gene product. Most pathogenic variants in SH3TC2 lead to loss or truncation of the protein, compatible with loss of function in an autosomal recessive disease. Pathogenic missense variants have been identified in inter-TPR regions [Roberts et al 2010]. Other constructs harboring disease-associated missense variants have also been shown to result in protein mislocalization in HeLa cells.

Sh3tc2 knockout mouse models show hypomyelination in peripheral nerves and wider nodes of Ranvier, while the paranodal structure remains unscathed. Nodes of Ranvier of individuals with CMT4C show similar changes in the nodes [Arnaud et al 2009].


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Chapter Notes


This work was supported by the Association Française contre les Myopathies (AFM).

Author History

Hamid Azzedine, PhD (2008-present)
Luc Bontoux, MD; Centre Hospitalier Universitaire d'Angers (2008-2015)
Eric LeGuern, MD, PhD (2008-present)
Mustafa A Salih, MD, Dr Med Sci, FRCPCH, FAAN (2015-present)

Revision History

  • 15 October 2015 (me) Comprehensive update posted live
  • 6 July 2010 (cd) Revision: edits to Agents/Circumstances to Avoid
  • 31 March 2008 (me) Review posted live
  • 10 February 2006 (ha) Original submission
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