Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22.
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of them have their mutations identified including 26 novel changes. Comprehensive phenotyping of these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes.
Bardet-Biedl 综合征（BBS）是一种纤毛病，其特征为视网膜变性、肥胖、多指（趾）畸形、肾脏异常和认知障碍，已经确定了 15 个致病基因。在这里，我们报告了对我们的多民族队列 83 个家系（105 例）的突变分析结果；其中 75.9%的家系确定了其突变，包括 26 个新的变化。对这些患者的全面表型分析表明，临床特征的范围比预期的要大，并与其他纤毛病（特别是 Alström 和 McKusick-Kauffman 综合征）的特征重叠。
