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Familial multiple epiphyseal dysplasia due to a matrilin‐3 mutation: Further delineation of the phenotype including 40 years follow‐up
Author(s) -
Mostert A.K.,
Dijkstra P.F.,
Jansen B.R.H.,
van Horn J.R.,
de Graaf B.,
Heutink P.,
Lindhout D.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20034
Subject(s) - phenotype , genetics , mutation , dysplasia , clinical phenotype , medicine , biology , bioinformatics , gene
In this study, we followed‐up the family with bilateral hereditary micro‐epiphyseal dysplasia (BHMED) originally described by Elsbach [1959: J Bone Joint Surg [Br] 41‐B:514–523]. Clinical re‐examination of all available family members resulted in further delineation of the clinical and radiological phenotype, which is distinct from common multiple epiphyseal dysplasia (MED). Linkage analysis excluded EDM1, EDM2, and EDM3 as candidate genes. Linkage and mutation analysis of matrilin‐3 (MATN‐3) revealed a new pathogenic mutation confirming that BHMED is indeed a distinct disease entity among MED and MED‐like disorders. © 2003 Wiley‐Liss, Inc.