由matrilin-3突变引起的家族性多发性骨骺发育不良：对表型的进一步描述，包括40年随访。

Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.

作者信息

Mostert A K, Dijkstra P F, Jansen B R H, van Horn J R, de Graaf B, Heutink P, Lindhout D

机构信息

Isala Clinics, Location Weezenlanden, Department of Orthopaedic Surgery, Zwolle, The Netherlands.

出版信息

Am J Med Genet A. 2003 Aug 1;120A(4):490-7. doi: 10.1002/ajmg.a.20034.

DOI:10.1002/ajmg.a.20034

PMID:12884427

Abstract

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.

摘要

在本研究中，我们对最初由Elsbach[1959年：《骨与关节外科杂志》（英国版）41-B：514 - 523]描述的双侧遗传性微骨骺发育不良（BHMED）家族进行了随访。对所有可获得的家族成员进行临床复查，进一步明确了临床和放射学表型，该表型不同于常见的多发性骨骺发育不良（MED）。连锁分析排除了EDM1、EDM2和EDM3作为候选基因。对matrilin - 3（MATN - 3）的连锁和突变分析发现了一个新的致病突变，证实BHMED在MED及类似MED的疾病中确实是一种独特的疾病实体。