Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 19-32 , March 2008

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

  • Andrea Superti-Furga (Director and Chair)

      Affiliations

    • Corresponding Author InformationCorresponding author. Centre for Paediatrics and Adolescent Medicine, Freiburg University Hospital, Mathildenstr. 1, D-79106 Freiburg, Germany, Tel.: +49 761 270 4305; Fax: +49 761 270 4454.

References 

  1. Ballhausen D, Bonafe L, Terhal P, et al. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. Journal of Medical Genetics. 2003;40:65–71
  2. Haga N, Nakamura K, Takikawa K, et al. Stature and severity in multiple epiphyseal dysplasia. Journal of Pediatric Orthopaedics. 1998;18:394–397
  3. Jakkula E, Lohiniva J, Capone A, et al. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. Journal of Medical Genetics. 2003;40:942–948
  4. Jakkula E, Makitie O, Czarny-Ratacjzak M, et al. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. European Journal of Human Genetics. 2005;13:292–301
  5. Itoh T, Shirahama S, Nakashima E, et al. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. American Journal of Medical Genetics A. 2006;140:1280–1284
  6. Zankl A, Jackson GC, Crettol LM, et al. Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. European Journal of Human Genetics. 2007;15:150–154
  7. Briggs MD, Hoffman SM, King LM, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nature Genetics. 1995;10:330–336
  8. Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Human Mutation. 2002;19:465–478
  9. Briggs MD, Mortier GR, Cole WG, et al. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. American Journal of Human Genetics. 1998;62:311–319
  10. Mabuchi A, Haga N, Maeda K, et al. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. Human Mutation. 2004;24:439–440
  11. Rimoin DL, Rasmussen IM, Briggs MD, et al. A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. Human Genetics. 1994;93:236–242
  12. Superti-Furga A, Neumann L, Riebel T, et al. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. Journal of Medical Genetics. 1999;36:621–624
  13. Nakashima E, Ikegawa S, Ohashi H, et al. Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. American Journal of Medical Genetics. 2005;133:106–107
  14. Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Human Mutation. 2001;18:82
  15. Borochowitz ZU, Scheffer D, Adir V, et al. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. Journal of Medical Genetics. 2004;41:366–372
  16. Chapman KL, Mortier GR, Chapman K, et al. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nature Genetics. 2001;28:393–396
  17. Makitie O, Mortier GR, Czarny-Ratajczak M, et al. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. American Journal of Medical Genetics. 2004;125:278–284
  18. Mortier GR, Chapman K, Leroy JL, Briggs MD. Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. European Journal of Human Genetics. 2001;9:606–612
  19. Deak F, Wagener R, Kiss I, Paulsson M. The matrilins: a novel family of oligomeric extracellular matrix proteins. Matrix Biology. 1999;18:55–64
  20. Briggs MD, Choi H, Warman ML, et al. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. American Journal of Human Genetics. 1994;55:678–684
  21. Czarny-Ratajczak M, Lohiniva J, Rogala P, et al. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. American Journal of Human Genetics. 2001;69:969–980
  22. Paassilta P, Lohiniva J, Annunen S, et al. COL9A3: a third locus for multiple epiphyseal dysplasia. American Journal of Human Genetics. 1999;64:1036–1044
  23. Bonnemann CG, Cox GF, Shapiro F, et al. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proceedings of the National Academy of Sciences of the United States of America. 2000;97:1212–1217
  24. Muragaki Y, Mariman EC, van Beersum SE, et al. A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nature Genetics. 1996;12:103–105
  25. Takahashi M, Matsui Y, Goto T, et al. Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2). Clinical Rheumatology. 2006;25:591–595
  26. Unger SL, Briggs MD, Holden P, et al. Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. Pediatric Radiology. 2001;31:10–18
  27. Holden P, Canty EG, Mortier GR, et al. Identification of novel pro-alpha2(iX) collagen gene mutations in two families with distinctive oligoepiphyseal forms of multiple epiphyseal dysplasia. American Journal of Human Genetics. 1999;65:31–38
  28. Pihlajamaa T, Vuoristo MM, Annunen S, et al. Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule. Matrix Biology. 1998;17:237–241
  29. Lohiniva J, Paassilta P, Seppanen U, et al. Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. American Journal of Medical Genetics. 2000;90:216–222

PII: S1521-6942(07)00133-7

doi: 10.1016/j.berh.2007.11.009

Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 19-32 , March 2008

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