• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.

Cover of GeneReviews®

GeneReviews® [Internet].

Show details

X-Linked Spondyloepiphyseal Dysplasia Tarda

Synonyms: SED Tarda, X-Linked; SEDT; X-Linked SED

, MD, PhD and , MS.

Author Information
, MD, PhD
Department of Genetics
Southern California Permanente Medical Group
Los Angeles, California
, MS
Department of Pediatrics
Vanderbilt University Medical Center
Nashville, Tennessee

Initial Posting: ; Last Update: February 15, 2011.

Summary

Disease characteristics. In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have normal body proportions. Affected males exhibit retarded linear growth beginning around age six to eight years. Final adult height is typically 4'10" to 5'6". Progressive joint and back pain with osteoarthritis ensues; hip, knee, and shoulder joints are commonly involved but to a variable degree. Hip replacement is often required as early as age 40 years. Interphalangeal joints are typically spared. Motor and cognitive milestones are normal.

Diagnosis/testing. The diagnosis of X-linked SEDT, which relies upon a combination of clinical and radiographic features, is usually possible in childhood. Adolescent and adult males have disproportionately short stature with a relatively short trunk and barrel-shaped chest. Upper- to lower-body segment ratio is usually about 0.8. Arm span typically exceeds height by 10-20 cm. Characteristic radiographic findings, which typically appear prior to puberty, include multiple epiphyseal abnormalities; platyspondyly (flattened vertebral bodies) with characteristic superior and inferior "humping" seen on lateral view; narrow disc spaces in adulthood; scoliosis; hypoplastic odontoid process; short femoral necks; coxa vara; and evidence of premature osteoarthritis beginning in young adulthood. TRAPPC2 (SEDL) is the only gene in which mutations are known to cause X-linked SEDT. Molecular genetic testing reveals a mutation in SEDL in more than 80% of males with a clinical diagnosis of X-linked SEDT.

Management. Treatment of manifestations: Surgical intervention may include joint replacement (hip, knee, shoulder) or spine surgery (correction of scoliosis or kyphosis). Standard chronic pain management preceding or following orthopedic surgery is often required.

Surveillance: Annual follow-up for assessment of joint pain and scoliosis; and cervical spine films prior to school age and before any surgical procedure involving general anesthesia to assess for clinically significant odontoid hypoplasia.

Agents/circumstances to avoid: Activities and occupations that place undue stress on the spine and weight-bearing joints.

Evaluation of relatives at risk: Presymptomatic testing in males at risk may obviate unnecessary diagnostic testing for other causes of short stature and/or osteoarthritis.

Genetic counseling. X-linked SEDT is inherited in an X-linked recessive manner. In reported cases in which molecular genetic testing was performed, all mothers of affected sons, regardless of family history, were carriers of a mutation in SEDL. Carrier females have a 50% risk of transmitting the SEDL mutation in each pregnancy: males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will not be affected. None of the sons of an affected male will be affected; all daughters will be carriers of the SEDL mutation. Carrier testing of at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family has been identified.

Diagnosis

Clinical Diagnosis

X-linked SEDT is suggested in males with the following findings:

  • Disproportionate short stature in adolescence or adulthood and a relatively short trunk and barrel-shaped chest. Upper- to lower-body segment ratio is usually around 0.8. Arm span typically exceeds height by 10-20 cm. Short neck, dorsal kyphosis, and lumbar hyperlordosis may be evident by puberty.
  • Early-onset osteoarthritis, especially in the hip joints
  • A family history consistent with X-linked recessive inheritance. A positive family history is contributory but not necessary.
  • Absence of cleft palate and retinal detachment (frequently present in SED congenita; see Differential Diagnosis)

Testing

Routine laboratory test results are normal in affected males and carrier females.

Radiographic Findings

Affected males. The diagnosis of X-linked SEDT can be established by the observation of the following radiographic findings, which may not be manifest in early childhood and typically appear prior to puberty (Figure 1):

Figure 1

Figure

Figure 1. Radiographs of a 31-year-old male with SEDT
A. Platyspondyly with superior and inferior humping of vertebral bodies
B. Severe degenerative changes in both hip joints.

  • Multiple epiphyseal abnormalities
  • Platyspondyly (flattened vertebral bodies) with characteristic superior and inferior "humping" seen on lateral view; narrow disc spaces in adulthood
  • Scoliosis
  • Hypoplastic odontoid process
  • Short femoral necks
  • Coxa vara
  • Evidence of premature osteoarthritis beginning in young adulthood

Radiographs of symptomatic males should be reviewed by a radiologist experienced with bone dysplasias.

Carrier females. One report described phenotypically normal females with mild radiologically detectable osteoarthritic changes [Whyte et al 1999].

Molecular Genetic Testing

Gene. TRAPPC2 (previously known as SEDL) is the only gene in which mutations are known to cause X-linked spondyloepiphyseal dysplasia tarda.

Clinical testing

Table 1. Summary of Molecular Genetic Testing Used in X-linked SEDT

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
MalesHeterozygous Females
TRAPPC2Sequence analysisSequence variants 4100% 580% 6
Deletion/ duplication analysis 7(Multi)exonic or whole-gene deletion/duplication20% 820%

1. See Table A. Genes and Databases for chromosome locus and protein name.

2. See Molecular Genetics for information on allelic variants.

3. The ability of the test method used to detect a mutation that is present in the indicated gene

4. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5. Lack of amplification by PCRs prior to sequence analysis can suggest a putative deletion of one or more exons or the entire X-linked gene in a male; confirmation may require additional testing by deletion/duplication analysis. See footnote 6.

6. Sequence analysis of genomic DNA cannot detect deletion of one or more exons or the entire X-linked gene in a heterozygous female.

7. Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

8. Males initially suspected on sequence analysis of having a deletion in whom the deletion is subsequently confirmed by deletion/duplication analysis

Testing Strategy

To confirm/establish the diagnosis in a proband

  • In males with characteristic findings on skeletal x-rays and a family history consistent with X-linked inheritance, molecular genetic testing can be used to confirm the diagnosis.
  • The majority of mutations detected are point mutations or 2- to 5-bp deletions; therefore, sequence analysis is the first diagnostic test of choice. Affected males in whom specific exon(s) cannot be amplified by PCR are presumed to harbor genomic deletions. Such mutations may possibly be characterized by deletion/duplication analysis.

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

Note: (1) Carriers are heterozygotes for this X-linked recessive disorder and may possibly develop minimal clinical findings attributable to the disorder. (2) Identification of female carriers requires either (a) prior identification of the disease-causing mutation in the family or, (b) if an affected male is not available for testing, molecular genetic testing by sequence analysis. Note: If no mutation is identified, methods to detect gross structural abnormalities may be available in a laboratory offering deletion/duplication analysis.

Predictive testing for at-risk male relatives requires prior identification of the disease-causing mutation in the family.

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

Clinical Description

Natural History

Males. At birth, affected males are normal in size and have normal body proportions. Affected males exhibit retarded linear growth beginning around grade school (ages six to eight years). Final adult height is typically 137-163 cm [Whyte et al 1999, Jones 2006, Unger et al 2007].

Adults with X-linked SEDT have disproportionately short stature with short trunk and arm span significantly greater than height.

Progressive joint and back pain with osteoarthritis ensues; hip, knee, and shoulder joints are commonly involved to variable degrees. Hip replacement is often required as early as age 40 years. Interphalangeal joints are typically spared.

Affected males achieve normal motor and cognitive milestones. Life span and intelligence appear normal.

Females. Carrier females typically show no phenotypic changes, but mild symptoms of osteoarthritis have been reported [Whyte et al 1999].

Genotype-Phenotype Correlations

Data are inadequate to reliably correlate clinical severity to a specific gene mutation. All mutations identified thus far, irrespective of their molecular basis, result in an almost identical phenotype, including the true null mutations.

Nomenclature

Spondyloepiphyseal dysplasia is a general term that describes the radiographic abnormalities seen in several skeletal dysplasias, including pseudoachondroplasia. The "congenita" form is evident at birth, whereas the "tarda" form is usually evident by school age.

SED tarda commonly refers to the X-linked recessive form of the disorder, although rare autosomal dominant and autosomal recessive “tarda” forms have been described.

Prevalence

The prevalence is 1:150,000 - 1:200,000 [Wynne-Davies & Gormley 1985].

Mutations in TRAPPC2 (SEDL) have been found in several ethnic groups including European [Gedeon et al 2001], Japanese [Matsui et al 2001], and Chinese [Shu et al 2002], an observation suggesting that no specific population is at increased risk.

Differential Diagnosis

X-linked spondyloepiphyseal dysplasia tarda is distinguished from other forms of spondyloepiphyseal dysplasia (SED) by its later onset and X-linked inheritance. These other forms of SED include the following:

  • SED congenita, inherited in an autosomal dominant manner; usually evident at birth with disproportionately short stature and diagnostic radiographic changes. Affected individuals often have midline cleft palate and are at risk for hearing loss and high myopia with retinal detachment. It is the most common form of SED. SED congenita is caused by mutations in COL2A1, the gene encoding type II collagen.
  • SED tarda, autosomal forms (rare). A dominant form may be caused by mutations in COL2A1; a recessive form has been described clinically but not molecularly defined.
  • Morquio syndrome (mucopolysaccharidosis type IV), inherited in an autosomal recessive manner, is caused by deficiency in one of two enzymes: N-acetyl-galactosamine-6-sulfatase or beta-galactosidase. It is characterized by mild dysostosis multiplex, odontoid hypoplasia, short stature, and cloudy corneas. (See Mucopolysaccharidosis Type IVA and GLB1-Related Disorders.)
  • Multiple epiphyseal dysplasia (MED), inherited in an autosomal dominant manner, presents early in childhood, usually with pain in the hips and/or knees after exercise. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis particularly of the large weight-bearing joints. By definition, the spine is normal, although Schmorl bodies and irregular vertebral end plates may be observed. Mutations in five genes have been shown to cause dominant MED: COMP, COL9A1, COL9A2, COL9A3, and MATN3.
  • Scheuermann disease, a term applied to premature osteoarthritis of the spine, regardless of the etiology
  • Spondyloperipheral dysplasia, inherited in an autosomal dominant manner; also presents with short hands, feet, and ulnae. One family has been reported with a mutation in COL2A1.
  • Stickler syndrome, inherited in an autosomal dominant manner, is variable and can include myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Most affected individuals have a truncation mutation in COL2A1; mutations in COL11A1 and COL11A2 have also been described. Some individuals do not have an identified mutation.

Note to clinicians: For a patient-specific ‘simultaneous consult’ related to this disorder, go to Image SimulConsult.jpg, an interactive diagnostic decision support software tool that provides differential diagnoses based on patient findings (registration or institutional access required).

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with X-linked spondyloepiphyseal dysplasia tarda (SEDT), the following is noted:

  • The radiographic survey necessary for an accurate diagnosis also serves to document the extent of disease at the time of presentation.
  • Individuals with X-linked SEDT need to be assessed for the possibility of clinically significant odontoid hypoplasia.

Treatment of Manifestations

Surgical intervention may include joint replacement (hip, knee, shoulder) or spine surgery (correction of scoliosis or kyphosis).

Chronic pain management preceding or following orthopedic surgery is standard and often required.

Surveillance

Affected individuals should be followed annually for the development of joint pain and scoliosis.

Cervical spinal films should be obtained prior to:

  • School age to assess for clinically significant odontoid hypoplasia;
  • Any surgical procedure involving general anesthesia to assess for clinically significant odontoid hypoplasia.

Agents/Circumstances to Avoid

In individuals with odontoid hypoplasia, extreme neck flexion and extension should be avoided.

Activities and occupations that place undue stress on the spine and weight-bearing joints should be avoided.

Evaluation of Relatives at Risk

If the disease-causing mutation in the family is known, presymptomatic testing of at-risk males allows early diagnosis and may obviate unnecessary diagnostic testing for other causes of short stature and/or osteoarthritis.

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

X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive manner.

Risk to Family Members

Parents of a proband

Sibs of a proband

  • The risk to sibs depends on the carrier status of the mother.
  • If the mother is a carrier, the chance of transmitting the disease-causing mutation in each pregnancy is 50%. Male sibs who inherit the mutation will be affected; female sibs who inherit the mutation will be carriers and will usually not be affected.
  • If the mother is not a carrier, the risk to sibs is low but greater than that of the general population; although research studies have not identified germline mosaicism in mothers who have one affected son and an otherwise negative family history, the risk of germline mosaicism in mothers is not known.

Offspring of a proband. None of the sons of an affected male will be affected. All daughters will be carriers of the TRAPPC2 mutation.

Other family members of a proband. The proband's maternal aunts and their offspring may be at risk of being carriers or of being affected (depending on their gender, family relationship, and the carrier status of the proband's mother).

Carrier Detection

Carrier testing of at-risk female relatives using molecular genetic techniques is possible if the disease-causing mutation has been identified in an affected family member.

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

Prenatal Testing

Prenatal testing is possible for pregnancies of women who are carriers. The usual procedure is to determine sex by chromosome analysis on fetal cells obtained by chorionic villus sampling (usually performed at ~10-12 weeks' gestation) or by amniocentesis (usually performed at ~15-18 weeks' gestation). If the karyotype is 46,XY and if the disease-causing mutation has been identified in a family member, DNA from fetal cells can be analyzed for the known disease-causing mutation.

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

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the disease-causing mutation has 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.

  • Human Growth Foundation (HGF)
    997 Glen Cove Avenue
    Suite 5
    Glen Head NY 11545
    Phone: 800-451-6434 (toll-free)
    Fax: 516-671-4055
    Email: hgf1@hgfound.org
  • Little People of America, Inc. (LPA)
    250 El Camino Real
    Suite 201
    Tustin CA 92780
    Phone: 888-572-2001 (toll-free); 714-368-3689
    Fax: 714-368-3367
    Email: info@lpaonline.org
  • MAGIC Foundation
    6645 West North Avenue
    Oak Park IL 60302
    Phone: 800-362-4423 (Toll-free Parent Help Line); 708-383-0808
    Fax: 708-383-0899
    Email: info@magicfoundation.org
  • International Skeletal Dysplasia Registry
    Cedars-Sinai Medical Center
    116 North Robertson Boulevard, 4th floor (UPS, FedEx, DHL, etc)
    Pacific Theatres, 4th Floor, 8700 Beverly Boulevard (USPS regular mail only)
    Los Angeles CA 90048
    Phone: 310-423-9915
    Fax: 310-423-1528

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. X-Linked Spondyloepiphyseal Dysplasia Tarda: Genes and Databases

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 X-Linked Spondyloepiphyseal Dysplasia Tarda (View All in OMIM)

300202TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2; TRAPPC2
313400SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT

Normal allelic variants. TRAPPC2 (previously known as SEDL) is composed of six exons, with the start site for translation located in exon 3. No normal allelic variants have been reported.

Pathologic allelic variants. Mutations in TRAPPC2 (SEDL) causing X-linked SEDT include splice site mutations, nonsense mutations, deletions, and rare missense mutations. Examples include: dinucleotide deletions in exons 3, 4, and 5; tetranucleotide deletion in exon 6; pentanucleotide deletion in exon 5; splice donor site mutations 3' to exons 3 and 4; splice acceptor site mutations 5' to exons 2, 3, 4, 5, and 6; nonsense mutations in exons 3, 4, 5, and 6; missense mutations (detailed in Table 3); and deletions of exons 3, 6, and 4-6. Table 2 summarizes recurrent mutations.

Note: The exonic and multiexonic deletions (see also HGMD in Table A) would not be detected in female carriers by sequence analysis (see Table 1).

Table 2. Recurrent Pathologic Allelic Variants in TRAPPC2 (SEDL)

% of All Affected IndividualsPathologic Allelic Variant 1
~18%c.93+5G>A
~5%c.157_158delAT
~4%c.191_192delTG
~13%c.271_275delCAAGA
~9%Other recurrent mutations

As reviewed by Gedeon et al [2001], Savarirayan et al [2003], Shaw et al [2003], and Fiedler et al [2004]

1. See Table 3 for detailed information on each mutation.

Table 3. Selected TRAPPC2 (SEDL) Pathologic Variants

DNA Nucleotide Change
(Alias 1)
Protein Amino Acid ChangeReference Sequences
c.93+5G>A
(IVS3+5G>A)
--NM_001011658​.3
NP_001011658​.1
c.139G>Tp.Asp47Tyr
c.157_158delATp.Met53Valfs*35
c.191_192delTGp.Val64Glyfs*24
c.218C>Tp.Ser73Leu
c.248T>Cp.Phe83Ser
c.271_275delCAAGAp.Gln91Argfs*9
c.389T>Ap.Val130Asp

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1. Variant designation that does not conform to current naming conventions

Normal gene product. TRAPPC2 encodes a 140-amino acid protein of unknown function, which appears to be ubiquitously expressed [Gedeon et al 1999, Gecz et al 2000]. Functional motifs within the protein sequence have yet to be identified. Based on function of the yeast homolog, sedlin may be involved with intracellular protein trafficking, as part of the TRAPP (transport protein particle) complex [Jang et al 2002]. Other studies have demonstrated localization of TRAPPC2 to the nucleus, where it interacts with various transcription factors [Jeyabalan et al 2010, Liu et al 2010].

Abnormal gene product. Almost all mutations identified in TRAPPC2 are predicted to generate a null allele or truncated protein product.

References

Literature Cited

  1. Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. Hum Mutat. 2004;24:103. [PubMed: 15221797]
  2. Gecz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics. 2000;69:242–51. [PubMed: 11031107]
  3. Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gecz J. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet. 1999;22:400–4. [PubMed: 10431248]
  4. Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet. 2001;68:1386–97. [PMC free article: PMC1226125] [PubMed: 11349230]
  5. Jang SB, Kim YG, Cho YS, Suh PG, Kim KH, Oh BH. Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. J Biol Chem. 2002;277:49863–9. [PubMed: 12361953]
  6. Jeyabalan J, Nesbit MA, Galvanovskis J, Callaghan R, Rorsman P, Thakker RV. SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1. PLoS One. 2010;5:e10646. [PMC free article: PMC2871040] [PubMed: 20498720]
  7. Jones KL. Smith's Recognizable Patterns of Human Mutation. 6 ed. Philadelphia, PA: WB Saunders; 2006:426-7.
  8. Liu X, Wang Y, Zhu H, Zhang Q, Xing X, Wu B, Song L, Fan L. Interaction of Sedlin with PAM14. J Cell Biochem. 2010;109:1129–33. [PubMed: 20108251]
  9. Matsui Y, Yasui N, Ozono K, Yamagata M, Kawabata H, Yoshikawa H. Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. Am J Med Genet. 2001;99:328–30. [PubMed: 11252002]
  10. Savarirayan R, Thompson E, Gecz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). Eur J Hum Genet. 2003;11:639–42. [PubMed: 12939648]
  11. Shaw MA, Brunetti-Pierri N, Kadasi L, Kovacova V, Van Maldergem L, De Brasi D, Salerno M, Gecz J. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. Clin Genet. 2003;64:235–42. [PubMed: 12919139]
  12. Shu SG, Tsai CR, Chi CS. Spondyloepiphyseal dysplasia tarda: report of one case. Acta Paediatr Taiwan. 2002;43:106–8. [PubMed: 12041616]
  13. Tiller GE, Hannig VL, Dozier D, Carrel L, Trevarthen KC, Wilcox WR, Mundlos S, Haines JL, Gedeon AK, Gecz J. A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet. 2001;68:1398–407. [PMC free article: PMC1226126] [PubMed: 11326333]
  14. Unger S, Lachman RS, Rimoin DL: Chondrodysplasias. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery & Rimoin’s Principles and Practice of Medical Genetics. 5 ed. New York, NY: Churchill Livingstone; 2007:3709-53.
  15. Whyte MP, Gottesman GS, Eddy MC, McAlister WH. X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine (Baltimore). 1999;78:9–25. [PubMed: 9990351]
  16. Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. J Bone Joint Surg Br. 1985;67:133–7. [PubMed: 3155744]

Chapter Notes

Revision History

  • 15 February 2011 (me) Comprehensive update posted live
  • 5 April 2006 (me) Comprehensive update posted to live Web site
  • 10 February 2004 (me) Comprehensive update posted to live Web site
  • 30 December 2003 (cd) Revision: change in test availability
  • 1 November 2001 (me) Review posted to live Web site
  • 16 May 2001 (gt) Original submission
Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

For more information, see the GeneReviews Copyright Notice and Usage Disclaimer.

For questions regarding permissions: ude.wu@tssamda.

Bookshelf ID: NBK1145PMID: 20301324
PubReader format: click here to try

Views

  • PubReader
  • Print View
  • Cite this Page
  • Disable Glossary Links

Tests in GTR by Gene

Tests in GTR by Condition

Related information

  • MedGen
    Related information in MedGen
  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to pubmed
  • Gene
    Gene records cited in chapters on the NCBI bookshelf. Links are provided by the authors or the NCBI Bookshelf staff.

Related citations in PubMed

See reviews...See all...

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...