中文摘要：

巴德-毕氏综合征（Bardet-Biedl syndrome，BBS）是一种罕见的常染色体隐性遗传病，具有视网膜色素变性、肥胖、多指（趾）等多种临床特征。迄今为止，已发现21个BBS的相关基因，其突变均可导致BBS表型。肥胖作为BBS的主要特征之一，其形成与瘦索抵抗性、脂肪形成异常等有关，但对其分子致病机制的了解仍不完善。本文就BBS肥胖的分子病理学基础及其研究现状做一综述。

英文摘要：

Bardet-Biedl syndrome （BBS） is a rare autosomal recessive disease characterized by retinopathy, obesity, and polydactyly. So far 21 candidate genes have been discovered, and mutations of such genes can all cause the BBS phenotype. As one of the main features of the disease, the obesity in BBS has been associated with leptin resistance and abnormal adipogenesis. However, its molecular etiology is not yet completely clear. Here the molecular mechanism of BBS-assoeiated obesity is reviewed.