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Marinesco-Sjögren Syndrome

, MD, PhD and , MD, PhD.

Author Information
, MD, PhD
Department of Medical Genetics
University of Helsinki
Helsinki, Finland
, MD, PhD
Folkhalsan Institute of Genetics and Neuroscience Center
University of Helsinki
Helsinki, Finland

Initial Posting: ; Last Update: September 7, 2010.

Summary

Disease characteristics. Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, early-onset (not necessarily congenital) cataracts, mild to severe intellectual disability, hypotonia, and muscle weakness. Additional features are short stature and various skeletal abnormalities including scoliosis. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults are severely handicapped, life span in MSS appears to be near normal.

Diagnosis/testing. Diagnosis is based on clinical, radiographic, and neuroimaging studies. Electron-microscopic ultrastructural changes are thought to be specific to MSS. SIL1 is the only gene in which mutation is known to cause Marinesco-Sjögren syndrome.

Management. Treatment of manifestations: Symptomatic treatment of muscular manifestations usually by pediatric or adult neurologists and physiatrists and/or physical therapists; education programs tailored to the individual's developmental needs; cataract extraction as needed; hormone replacement therapy for primary gonadal failure at the expected time of puberty.

Surveillance: Regular follow up with a child or adult neurologist and physiatrist and/or physical therapist; ophthalmologic examination at regular intervals beginning in infancy.

Genetic counseling. Marinesco-Sjögren syndrome (MSS) is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes and therefore carry one mutant allele. 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 relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.

Diagnosis

Clinical Diagnosis

Marinesco-Sjögren syndrome (MSS) should be considered in individuals with the following clinical findings:

  • Cerebellar ataxia with cerebellar atrophy
  • Early-onset (not necessarily congenital) cataracts
  • Psychomotor delay
  • Myopathy, muscle weakness, and hypotonia

Additional features:

  • Hypergonadotropic hypogonadism (i.e., primary gonadal failure)
  • Short stature
  • Various skeletal abnormalities
  • Dysarthria
  • Strabismus and nystagmus

Although atypical findings including optic atrophy and peripheral neuropathy have been reported, it is unknown whether these are rare manifestations of MSS or features of a distinct disorder [Lagier-Tourenne et al 2003, Slavotinek et al 2005].

Electromyography (EMG). EMG typically shows myopathic features only.

Imaging. In individuals with classic MSS, neuroimaging studies such as magnetic resonance imaging (MRI) show cerebellar atrophy, usually more pronounced in the vermis than the hemispheres [Harting et al 2004]. A T2-hyperintense cerebellar cortex has been reported in individuals with MSS who have SIL1 mutations [Harting et al 2004, Anttonen et al 2005].

Muscle imaging studies show severe dystrophy-type muscle tissue replacement with fat and connective tissue [Mahjneh et al 2006].

The usual skeletal radiographic findings are scoliosis; shortening of metacarpals, metatarsals, and phalanges; coxa valga; pes planovalgus; and pectus carinatum [Reinker et al 2002, Mahjneh et al 2006].

Testing

Serum creatine kinase (CK) concentration. Serum CK concentrations are normal or moderately increased (usually 2-4 times the upper normal limits).

Muscle biopsy. Light microscopy shows variation in muscle fiber size, atrophic fibers, fatty replacement, and rimmed vacuole formation [Herva et al 1987, Suzuki et al 1997].

Electron microscopy reveals autophagic vacuoles, membranous whorls, and electron-dense double-membrane structures associated with nuclei, which are thought to be a specific ultrastructural feature of MSS [Herva et al 1987, Sewry et al 1988, Sasaki et al 1996].

Molecular Genetic Testing

Gene. SIL1 is the only gene known to be associated with MSS.

Other loci. Some individuals with typical Marinesco-Sjögren syndrome do not have identifiable mutations in SIL1, implying the existence of other as-yet unknown genes [Senderek et al 2005].

Clinical testing

  • Sequence analysis. Direct sequencing of the SIL1 coding region and exon-intron boundaries detects mutations in approximately 50% of individuals fulfilling diagnostic criteria [Author, personal observation]. In an analysis of individuals with classic MSS only, Senderek et al [2005] found SIL1 mutations in 66% of families.

Table 1. Summary of Molecular Genetic Testing Used in Marinesco-Sjögren Syndrome

Gene SymbolTest MethodMutations DetectedMutation Detection Frequency by Test Method 1
SIL1Sequence analysis Sequence variants 2~50%-60%
Sequence analysis of select exons Sequence variants in selected exons 2, 3Unknown
Deletion/duplication analysis 4Partial- or whole-gene deletions or duplicationsUnknown 5

1. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations.

2. Small intragenic deletions/insertions, missense, nonsense, and splice site mutations.

3. Exons sequenced may vary by laboratory. Exons 1 and 2 are not part of the coding region and may not be sequenced.

4. Testing that identifies deletions/duplications not readily detectable by sequence analysis of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), or targeted array GH (gene/segment-specific) may be used. A full array GH analysis that detects deletions/duplications across the genome may also include this gene/segment.

5. Mutation detection frequency is unknown; only one large deletion involving SIL1 has been reported to date [Takahata et al 2010]

Testing Strategy

To confirm/establish the diagnosis in a proband

  • Clinical evaluation
  • Brain MRI to evaluate for cerebellar atrophy
  • Muscle biopsy and/or EMG to evaluate for typical myopathic features
  • Molecular genetic testing starting with sequence analysis of SIL1 and followed by deletion/duplication analysis; since myopathic features are not easily detected in children, molecular genetic testing can be performed prior to muscle biopsy or EMG.

Carrier testing for at-risk relatives requires prior identification of the disease-causing mutations in the family.

Note: Carriers are heterozygotes for this autosomal recessive disorder and are not at risk of developing the disorder.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the disease-causing mutations in the family.

Clinical Description

Natural History

Infants with Marinesco-Sjögren syndrome (MSS) are born after uncomplicated pregnancies. Muscular hypotonia is usually present in early infancy. Distal and proximal muscular weakness is noticed during the first decade of life. Many affected individuals are never able to walk without assistance. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity.

Bilateral cataracts are not necessarily congenital but can develop rapidly, typically requiring lens extraction in the first decade of life. Nystagmus and strabismus are present.

Developmental milestones are delayed. Intellectual abilities vary from mild to severe intellectual disability.

Many individuals with MSS have short stature and variable degrees of scoliosis. The severity of the skeletal findings seems to correlate with the overall severity of manifestations [Mahjneh et al 2006].

Although many adults are severely handicapped, the life span in MSS seems to be near normal.

Genotype-Phenotype Correlations

No genotype-phenotype correlations have been reported to date. It should be noted that the severity of intellectual disability and myopathy vary widely among Finnish individuals, all of whom are homozygous for the same SIL1 mutation.

Nomenclature

Marinesco-Sjögren syndrome has previously been called:

  • Garland-Moorhouse syndrome
  • Marinesco-Garland syndrome
  • Hereditary oligophrenic cerebello-lental degeneration

Individuals first described as having Marinesco-Sjögren-like syndrome (also called ataxia-juvenile cataract-myopathy-intellectual disability (OMIM 248810) were later found to have classic MSS with SIL1 mutations, resulting in discontinuation of this OMIM entry.

Prevalence

Prevalence is not known.

MSS is pan ethnic.

The carrier frequency in Finland is approximately 1:96.

Differential Diagnosis

In individuals with atypical features of Marinesco-Sjögren syndrome (MSS), the following differential diagnostic possibilities should be considered:

  • Congenital cataracts, facial dysmorphism, and neuropathy syndrome (CCFDN) (OMIM 604168), which shares with MSS the features of cataracts, developmental delay, short stature, and hypogonadism [Kalaydjieva 2006]. The presence of (1) marked cerebellar atrophy leading to severe ataxia with myopathy in MSS and (2) hypo- or demyelinating neuropathy and post-infectious rhabdomyolysis in CCFDN distinguishes the two syndromes [Lagier-Tourenne et al 2002]. So far, CCFDN has only been reported in persons of Roma (Gypsy) ethnicity [Kalaydjieva 2006]. Mutations in CTDP1 on chromosome 18qter are causative [Varon et al 2003].
  • Ataxia-microcephaly-cataract syndrome (OMIM 208870), in which microcephaly distinguishes the phenotype from MSS
  • Cataract-ataxia-deafness-retardation syndrome (OMIM 212710), which differs from MSS by the presence of sensorineural hearing loss and polyneuropathy
  • VLDLR-associated cerebellar hypoplasia (OMIM 224050), in which progressive myopathy and elevated serum creatine kinase concentration are not seen
  • Familial Danish dementia (OMIM 117300), a dominant disorder in which cataracts and ataxia are later in onset than in MSS and dementia or psychosis is also observed

Other syndromes that share the main clinical features with MSS are clearly distinguishable on the basis of additional features.

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with Marinesco-Sjögren syndrome (MSS), the following evaluations are recommended:

  • Physical examination including measurement of height, weight, and head circumference
  • Evaluation of motor skills with special attention to muscle strength and cerebellar function
  • Assessment of developmental milestones in infants and intellectual abilities in older children, particularly before school age, to plan appropriate education and rehabilitation
  • Assessment of speech and feeding
  • Ophthalmologic examination

Treatment of Manifestations

Treatment of muscular manifestations is symptomatic. Affected individuals are usually managed by pediatric or adult neurologists and physiatrists and/or physical therapists.

Developmental delay and intellectual disability are managed with education programs tailored to the individual's needs.

Cataracts are removed surgically during the first decade of life.

Hypergonadotropic hypogonadism (i.e., primary gonadal failure) is treated with hormone replacement therapy at the expected time of puberty.

Prevention of Secondary Complications

Hormone replacement therapy in individuals with hypergonadotropic hypogonadism and reduced physical activity can prevent osteoporosis.

Surveillance

The following are appropriate:

  • Regular follow-up with a child or adult neurologist and physiatrist and/or physical therapist
  • If the diagnosis is made prior to the development of cataracts, ophthalmologic examination beginning in infancy and at regular intervals

Evaluation of Relatives at Risk

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

Therapies Under Investigation

Search ClinicalTrials.gov 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.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, 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. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Marinesco-Sjögren syndrome (MSS) is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected child are obligate heterozygotes and therefore carry one mutant allele.
  • Heterozygotes (carriers) are asymptomatic.

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 is 2/3.
  • Heterozygotes (carriers) are asymptomatic.

Offspring of a proband. Affected individuals with hypergonadotropic hypogonadism (primary gonadal failure) are likely to be infertile and thus have no offspring.

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

Carrier Detection

Carrier testing for at-risk family members is possible if the disease-causing mutations have been identified in the family.

Related Genetic Counseling Issues

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, mutations, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

If the disease-causing mutations have been identified in the family, prenatal diagnosis for pregnancies at increased risk is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis (usually performed at ~15-18 weeks’ gestation) or chorionic villus sampling (usually performed at ~10-12 weeks’ gestation).

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements.

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the disease-causing mutations have been identified.

Resources

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.

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. Marinesco-Sjogren Syndrome: Genes and Databases

Gene SymbolChromosomal LocusProtein NameLocus SpecificHGMD
SIL15q31​.2Nucleotide exchange factor SIL1SIL1 @ LOVDSIL1

Data are compiled from the following standard references: gene symbol from HGNC; chromosomal locus, locus name, critical region, complementation group from OMIM; protein name from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B. OMIM Entries for Marinesco-Sjogren Syndrome (View All in OMIM)

248800MARINESCO-SJOGREN SYNDROME; MSS
608005SIL1, S. CEREVISIAE, HOMOLOG OF; SIL1

Normal allelic variants. The primary transcript of SIL1 has ten exons and encodes a 461-amino acid protein. Northern blot analysis shows a transcript of approximately 1.8 kb in multiple tissues [Chung et al 2002, Anttonen et al 2005]. SIL1 can be alternatively spliced; a variant missing exon 6 is present in multiple tissues at low levels [Anttonen et al 2005] and another variant with an additional 5’ noncoding exon is present at least in placental tissue.

Pathologic allelic variants. A total of 21 mutations have been described in SIL1 (see Table 2. Pathologic Allelic Variants in SIL1; pdf) [Anttonen et al 2005, Senderek et al 2005, Karim et al 2006, Annesi et al 2007, Anttonen et al 2008, Eriguchi et al 2008, Riazuddin et al 2009, Takahata et al 2010]. Most mutations are nonsense or frameshift mutations predicted to truncate the protein product. Splice site mutations, missense mutations, and a larger genomic deletion have also been described.

Normal gene product. SIL1 encodes nucleotide exchange factor SIL1 (also known as BAP, for BiP-associated protein) for the endoplasmic reticulum resident heat-shock protein 70 chaperone BiP (also known as GRP78) [Tyson & Stirling 2000, Chung et al 2002]. As a nucleotide exchange factor, SIL1 induces ADP release and ATP binding of BiP. BiP is encoded by HSPA5; it functions in protein translocation, synthesis, and quality control and senses and responds to stressful cellular conditions [Hendershot 2004]. Marinesco-Sjögren syndrome (MSS) thus joins the group of protein-processing diseases.

Abnormal gene product. Most of the MSS-associated SIL1 mutations predict protein truncation likely to render the protein nonfunctional or to cause the transcript or protein to be degraded. The consequence of the three splice site mutations reported in intron 6 and intron 9, resulting in in-frame deleted SIL1 variants, could be either incorrect folding or absence of important functional domains [Anttonen et al 2005, Senderek et al 2005]. In persons who have in-frame deleted SIL1 variants, immunohistochemical staining is present, indicating that the variant(s) are translated [Anttonen et al 2005].

The MSS-associated missense SIL1 mutation (NM_001037633.1:c.1370T>C)(p.Leu457Pro) (see Table 2) has been studied in more detail [Anttonen et al 2008]. In transiently transfected COS-1 cells the mutant formed aggregates within the ER implying that aggregation of the mutant protein may contribute to MSS pathogenesis. Similar aggregations were found while studying an artificial mutation deleting the last four amino acids (the putative ER retrieval signal) of SIL1 [Anttonen et al 2008].

A truncation of Sil1 was shown to cause ataxia and cerebellar Purkinje cell loss in naturally-occurring woozy mutant mouse [Zhao et al 2005]. In the woozy mouse, the cerebellar Purkinje neuron degeneration is similar to that seen in MSS. Aside from the cerebellar defect, no muscle or lens phenotype was reported in the woozy mouse.

References

Medical Genetic Searches: A specialized PubMed search designed for clinicians that is located on the PubMed Clinical Queries page Image PubMed.jpg

Literature Cited

  1. Annesi G, Aguglia U, Tarantino P, Annesi F, De Marco EV, Civitelli D, Torroni A, Quattrone A. SIL1 and SARA2 mutations in Marinesco-Sjogren and chylomicron retention diseases. Clin Genet. 2007;71:288–9. [PubMed: 17309654]
  2. Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005;37:1309–11. [PubMed: 16282978]
  3. Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, Ichikawa Y, Goto J, Kopra O, Lehesjoki AE. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndrome. Eur J Hum Genet. 2008;16:961–9. [PubMed: 18285827]
  4. Chung KT, Shen Y, Hendershot LM. BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP. J Biol Chem. 2002;277:47557–63. [PubMed: 12356756]
  5. Eriguchi M, Mizuta H, Kurohara K, Fujitake J, Kuroda Y. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjogren syndrome. J Neurol Sci. 2008;270:197–200. [PubMed: 18395226]
  6. Harting I, Blaschek A, Wolf NI, Seitz A, Haupt M, Goebel HH, Rating D, Sartor K, Ebinger F. T2-hyperintense cerebellar cortex in Marinesco-Sjogren syndrome. Neurology. 2004;63:2448–9. [PubMed: 15623732]
  7. Hendershot LM. The ER function BiP is a master regulator of ER function. Mt Sinai J Med. 2004;71:289–97. [PubMed: 15543429]
  8. Herva R, von Wendt L, von Wendt G, Saukkonen AL, Leisti J, Dubowitz V. A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. Neuropediatrics. 1987;18:164–9. [PubMed: 3683758]
  9. Kalaydjieva L. Congenital cataracts - facial dysmorphism - neuropathy. Orphanet J Rare Dis. 2006;1:32. [PMC free article: PMC1563997] [PubMed: 16939648]
  10. Karim MA, Parsian AJ, Cleves MA, Bracey J, Elsayed MS, Elsobky E, Parsian A. A novel mutation in BAP/SIL1 gene causes Marinesco-Sjogren syndrome in an extended pedigree. Clin Genet. 2006;70:420–3. [PubMed: 17026626]
  11. Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, Christmann D, Flament J, Mandel JL, Koenig M, Dollfus H. Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome. J Med Genet. 2002;39:838–43. [PMC free article: PMC1735003] [PubMed: 12414825]
  12. Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Betard C, Warter JM, Koenig M. Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31. Eur J Hum Genet. 2003;11:770–8. [PubMed: 14512967]
  13. Mahjneh I, Anttonen AK, Somer M, Paetau A, Lehesjoki AE, Somer H, Udd B. Myopathy is a prominent feature in Marinesco-Sjogren syndrome: A muscle computed tomography study. J Neurol. 2006;253:301–6. [PubMed: 16151599]
  14. Reinker K, Hsia YE, Rimoin DL, Henry G, Yuen J, Powell B, Wilcox WR. Orthopaedic manifestations of Marinesco-Sjogren syndrome. J Pediatr Orthop. 2002;22:399–403. [PubMed: 11961464]
  15. Riazuddin SA, Amiri-Kordestani L, Kaul H, Butt T, Jiao X, Riazuddin S, Hejtmancik JF. Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. Mol Vis. 2009;15:1050–6. [PMC free article: PMC2685889] [PubMed: 19471582]
  16. Sasaki K, Suga K, Tsugawa S, Sakuma K, Tachi N, Chiba S, Imamura S. Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature. Brain Dev. 1996;18:64–7. [PubMed: 8907346]
  17. Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005;37:1312–4. [PubMed: 16282977]
  18. Sewry CA, Voit T, Dubowitz V. Myopathy with unique ultrastructural feature in Marinesco-Sjogren syndrome. Ann Neurol. 1988;24:576–80. [PubMed: 3239958]
  19. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet A. 2005;133A:197–201. [PubMed: 15633176]
  20. Suzuki Y, Murakami N, Goto Y, Orimo S, Komiyama A, Kuroiwa Y, Nonaka I. Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome. Acta Neuropathol. 1997;94:410–5. [PubMed: 9386772]
  21. Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura K, Kitaoka T. Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome. J Hum Genet. 2010;55:142–6. [PubMed: 20111056]
  22. Tyson JR, Stirling CJ. LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum. EMBO J. 2000;19:6440–52. [PMC free article: PMC305876] [PubMed: 11101517]
  23. Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmuller H, Mullner-Eidenbock A, Merlini L, Neumann L, Burger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003;35:185–9. [PubMed: 14517542]
  24. Zhao L, Longo-Guess C, Harris BS, Lee JW, Ackerman SL. Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP. Nat Genet. 2005;37:974–9. [PubMed: 16116427]

Suggested Reading

  1. Van Raamsdonk JM. Loss of function mutations in SIL1 cause Marinesco-Sjogren syndrome. Clin Genet. 2006;69:399–400. [PubMed: 16650075]

Chapter Notes

Revision History

  • 7 September 2010 (me) Comprehensive update posted live
  • 7 October 2008 (cd) Revision: sequencing of select exons available on a clinical basis
  • 29 November 2006 (me) Review posted to live Web site
  • 6 July 2006 (ael) Original submission
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