Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan.
Gene. 2013 Feb 15;515(1):84-8. doi: 10.1016/j.gene.2012.11.023. Epub 2012 Dec 6.
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder resulting from structural and functional defects in numerous organs. Frequent manifestations reported in the syndrome include obesity, renal dysplasia, cognitive impairment, postaxial polydactyly, pigmentary retinal degeneration and hypogonadism. To date, 17 genes causing BBS have been identified. Two of these BBS1 and BBS10 are the most frequently mutated genes. The present report describes two consanguineous families (A, B) with clinical manifestations of BBS. Linkage in the family A was established to ARL6 on chromosome 3q11.2, while family B showed linkage to BBS10 on chromosome 12q21.2. Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
Bardet-Biedl 综合征（BBS）是一种常染色体隐性疾病，由多个器官的结构和功能缺陷引起。该综合征常表现为肥胖、肾发育不良、认知障碍、后轴多指（趾）、色素性视网膜变性和性腺功能减退。迄今为止，已发现 17 个导致 BBS 的基因。其中两个是 BBS1 和 BBS10，它们是最常突变的基因。本报告描述了两个具有 BBS 临床表现的近亲家族（A、B）。家系 A 与 3q11.2 上的 ARL6 连锁，而家系 B 与 12q21.2 上的 BBS10 连锁。序列分析显示家系 A 的 ARL6 基因存在一个新的纯合错义突变（c.281T>C，p.Ile94Thr），家系 B 的 BBS10 基因存在一个无义突变（c.1075C>T，p.Gln359*）。本研究中鉴定的突变扩展了 ARL6 和 BBS10 基因导致 Bardet-Biedl 综合征的证据。
