Bardet-Biedl syndrome
Bardet-Biedl syndrome
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DOI：
10.1038/ejhg.2012.115
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发表时间：
2013-01-01
影响因子：
5.2
通讯作者：
Beales, Philip L.
中科院分区：
文献类型：
--
作者：
Forsythe, Elizabeth;Beales, Philip L.
Bardet-Biedl综合征（BBS）是一种罕见的常染色体隐性遗传性睫状体病，其特征为视网膜营养不良、肥胖、轴后多指（趾）畸形、肾功能障碍、学习困难和性腺功能减退。许多相关的次要特征有助于诊断，并在BBS的临床管理中很重要。该诊断基于临床发现，并可通过对80%患者的已知致病基因进行测序来证实。BBS基因编码定位于纤毛和基体的蛋白质，并参与纤毛的生物发生和功能。突变导致有缺陷的纤毛部分原因是在BBS中观察到的多效性效应。我们提供了一个概述BBS，包括临床发现，纤毛生物学的当前理解，和一个实用的方法来诊断，遗传咨询和最新的管理。
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localise to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We provide an overview of BBS including the clinical findings, current understanding of cilia biology, and a practical approach to diagnosis, genetic counselling and up-to-date management.