Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q
Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q
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DOI：
10.1086/505088
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发表时间：
2006-07-01
影响因子：
9.8
通讯作者：
Ikegawa, Shiro
中科院分区：
文献类型：
--
作者：
Mabuchi, Akihiko;Nakamura, Shigeru;Ikegawa, Shiro
遗传因素与骨关节炎（OA）有关，特别是髋关节OA（髋关节OA）。一些家族性髋关节骨关节炎的病例显示出独特的遗传模式，但与软骨发育不良不同。在这里，我们报告了一个日本大家庭的特征，他们患有髋关节遗传性疾病，与普通髋关节OA无法区分，临床症状和关节x线片证明了这一点。该家族4代共有8名患者。受影响的个体在青春期出现髋关节疼痛，并在60岁之前发展为严重的致残。患者一般身体健康，身高没有降低，没有提示软骨发育不良的骨骼外受累。骨骼变化为双侧髋臼发育不良继发骨性关节炎，发生在40岁左右，与特发性非家族性发育不良髋关节骨性关节炎难以区分。该性状表现为常染色体显性遗传，具有相当一致的表型。全基因组筛选发现染色体13q22有连锁，单倍型分析将位点缩小到标记D13S1296和D13S162之间6.0 cm的区间，最大多点LOD评分为3.57。这里描述的家族代表了一种新的遗传实体，作为髋关节OA的单基因形式。它的进一步表征可以帮助阐明一种常见的特发性骨关节炎的病因和发病机制。
Genetic factors have been implicated in osteoarthritis ( OA), particularly in OA of the hip joint ( hip OA). Several instances of familial hip OA that show distinctive modes of inheritance but that differ from chondrodysplasia have been reported. Here, we report the characterization of a large Japanese family with an inherited disease of the hip that is indistinguishable from common hip OA, as evidenced by clinical symptoms and radiographs of the joint. This family contained eight patients in 4 generations. Affected individuals develop pain in the hip joint during adolescence, and the disease progresses to severe crippling before age 60 years. Patients generally are in good health, height is not reduced, and there is no extraskeletal involvement suggestive of chondrodysplasia. The skeletal change is bilateral acetabular dysplasia followed by OA, which occurs after age similar to 40 years and is indistinguishable from idiopathic nonfamilial dysplastic hip OA. This trait shows autosomal dominant inheritance, with a considerably consistent phenotype. Genomewide screening revealed linkage at chromosome 13q22, and haplotype analysis narrowed the locus to a 6.0-cM interval between markers D13S1296 and D13S162, with a maximal multipoint LOD score of 3.57. The family described here represents a novel genetic entity as a monogenic form of hip OA. Its further characterization can aid in elucidating the etiology and pathogenesis of a common idiopathic form of OA.