Bardet-Biedl Syndrome (BBS) is a gentic disorder with primary features of retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and learning disabilities. In addition to displaying remarkable pleiotropy, BBS is a heterogeneous disorder with linkage to at least eight loci. The identification of the first five BBS genes provided little insight into BBS protein function. Ansley at al. have now identified a sixth BBS gene (BBS8) and provide evidence that the BBS8 protein and other BBS proteins localize to the basal body of ciliated cells, suggesting that BBS is a ciliary dysfunction disorder.

中文翻译：

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在纤毛和Bardet-Biedl综合征之间建立联系。

Bardet-Biedl综合征（BBS）是一种遗传性疾病，其主要特征是视网膜营养不良，肥胖，多指，结构和功能性肾脏异常以及学习障碍。除了表现出显着的多效性外，BBS是一种异质性疾病，与至少八个基因座相关。前五个BBS基因的鉴定提供了很少了解BBS蛋白功能。安斯利（Als）现已鉴定出第六个BBS基因（BBS8），并提供证据表明BBS8蛋白和其他BBS蛋白位于纤毛细胞的基底体，这表明BBS是一种睫状功能障碍。