巴德-毕氏综合征研究的现状及意义

Current status and implication of research on Bardet-Biedl syndrome

巴德一毕氏综合征（Bardet—Biedl syndrome，BBS）是一种罕见的常染色体隐性遗传疾病，由Bardet和Biedl在1920年首次报道。BBS具有高度的遗传异质性，其临床症状包括视网膜营养不良、肥胖、多指／趾、肾畸形或肾功异常、学习障碍及性腺发育不全等。BBS患者常伴糖尿病、高血压及先心病等继发症状。迄今已发现16个BBS基因（BBS1-BBS16）异常可以导致BBS表型，但其分子致病机制仍不完全清楚。

Bardet-Biedl syndrome （BBS） is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s. BBS is a pleiotropic and genetically heterogeneous disorder characterized by retinopatby, obesity, polydactyly, renal malformations and functional abnormalities, learning disabilities and hypogenitalism. BBS patients are also prone to diabetes mellitus, hypertension and congenital heart disease. To date, 16 BBS genes （BBS1-BBS16） have been identified. However, the molecular etiology of BBS is not yet entirely clear. In this article, we have reviewed recent research on BBS and discussed its implications for understanding of ciliopathology.