A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family
A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family
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DOI：
10.1007/s00439-007-0354-y
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发表时间：
2007-06-01
期刊：
影响因子：
5.3
通讯作者：
Ikegawa, Shiro
中科院分区：
文献类型：
--
作者：
Miyamoto, Yoshinari;Matsuda, Tatsuo;Ikegawa, Shiro
Legg-Calve-Perthes病（LCPD）是一种常见的儿童髋关节疾病，其特征是股骨头骨骺受累的连续阶段，包括软骨下骨折、碎裂、再骨化和愈合伴残余畸形。大多数病例是散发性的，但也有家族性病例，有些家族有多个受影响的成员。遗传因素与LCPD的病因有关，但致病基因尚未确定。我们已经找到了一个错义突变（p.G1170S）在II型胶原基因（COL 2A 1）在日本家庭与常染色体显性遗传髋关节疾病表现为LCPD，并显示出相当大的家族内表型变异。这是遗传性LCPD突变的首次报道。COL 2A 1突变在LCPD患者中可能比目前认为的更常见，特别是在家族性和/或双侧病例中。
Legg-Calve-Perthes disease (LCPD) is a common childhood hip disorder characterized by sequential stages of involvement of the capital femoral epiphyses, including subchondral fracture, fragmentation, re-ossification and healing with residual deformity. Most cases are sporadic, but familial cases have been described, with some families having multiple affected members. Genetic factors have been implicated in the etiology of LCPD, but the causal gene has not been identified. We have located a missense mutation (p.G1170S) in the type II collagen gene (COL2A1) in a Japanese family with an autosomal dominant hip disorder manifesting as LCPD and showing considerable intra-familial phenotypic variation. This is the first report of a mutation in hereditary LCPD. COL2A1 mutations may be more common in LCPD patients than currently thought, particularly in familial and/or bilateral cases.