巴德-比德尔综合征：一种罕见的遗传病。
Bardet-Biedl syndrome: A rare genetic disease.
作者信息
Castro-Sánchez Sheila, Álvarez-Satta María, Valverde Diana
机构信息
Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Spain.
出版信息
J Pediatr Genet. 2013 Jun;2(2):77-83. doi: 10.3233/PGE-13051.
Bardet-Biedl syndrome (BBS) is a rare multisystem genetic disease, with high phenotypic and genetic heterogeneity. Rod-cone dystrophy, obesity, polydactyly, hypogonadism, cognitive impairment and renal abnormalities have been established as primary features. There are 17 BBS genes (BBS1-BBS17) described to date, which explain 70-80% of the patients clinically diagnosed, therefore more BBS genes remain to be identified. BBS belongs to a group of diseases known as ciliopathies. In general, ciliopathies and BBS in particular share a partial overlapping phenotype that makes them complicated to diagnose. We present an up-to-date review including clinical, epidemiologic and genetic aspects of the syndrome.
巴德-比埃尔综合征（BBS）是一种罕见的多系统遗传病，具有高度的表型和遗传异质性。视杆-视锥营养不良、肥胖、多指（趾）畸形、性腺功能减退、认知障碍和肾脏异常已被确认为主要特征。迄今为止，已描述了17个BBS基因（BBS1 - BBS17），这些基因解释了70 - 80%临床诊断的患者病因，因此仍有待鉴定更多的BBS基因。BBS属于一组被称为纤毛病的疾病。一般来说，纤毛病尤其是BBS具有部分重叠的表型，这使得它们的诊断变得复杂。我们提供了一篇最新综述，涵盖该综合征的临床、流行病学和遗传学方面。
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