Multiple epiphyseal dysplasia

Definition:

Multiple epiphyseal dysplasia (EDM) is a genetically heterogeneous condition where ossification of epiphyses is delayed. Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2, and COL9A3. Mutations in the COL2A1 gene cause multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD).

References:

[1]. C G Bönnemann, et al. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1212-7. [Content Brief]

[2]. Hae-Ryong Song, et al. Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. J Hum Genet. 2003;48(5):222-225. [Content Brief]

[3]. K L Chapman, et al. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet. 2001 Aug;28(4):393-6. [Content Brief]

[4]. Karthika Balasubramanian, et al. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. Am J Med Genet A. 2017 Sep;173(9):2415-2421. [Content Brief]

[5]. M Czarny-Ratajczak, et al. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet. 2001 Nov;69(5):969-80. [Content Brief]

[6]. Outi Mäkitie, et al. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Am J Med Genet A. 2003 Oct 15;122A(3):187-92. [Content Brief]

[7]. S Unger, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet. 2001 Winter;106(4):244-50. [Content Brief]

[8]. Sheila Unger, et al. Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):19-32. [Content Brief]

[9]. Y Muragaki, et al. A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet. 1996 Jan;12(1):103-5. [Content Brief]

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