Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner. BBS is caused by disease causing sequence variants in the 22 BBS genes identified to date. In the present study, a single consanguineous Pakistani Family with BBS was clinically and genetically characterized. After establishing linkage to a BBS gene on chromosome 4q27, Sanger sequencing was performed in all available affected and unaffected members. Sequence analysis of the BBS7 gene revealed novel substitution mutation (c.719G>T; p. Gly240Val). Our findings further extend the body of evidence implicating BBS7 in causing BBS and expand the mutation spectrum.

中文翻译：

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巴基斯坦近亲家庭中Bardet-Biedl综合征基础BBS7基因的新型错义变异。

Bardet-Biedl综合征（BBS）具有六个主要特征：后轴多指症，肥胖，学习障碍，肾脏异常，色素性视网膜炎和性腺功能低下，并以常染色体隐性方式遗传。BBS是由迄今确定的22个BBS基因中的致病序列变异引起的。在本研究中，具有BBS的一个近亲巴基斯坦家庭在临床和遗传上都有特征。建立与染色体4q27上BBS基因的连锁后，对所有可用的受影响和未受影响成员进行Sanger测序。BBS7基因的序列分析揭示了新的取代突变（c.719G> T； p。Gly240Val）。我们的发现进一步扩大了涉及BBS7引起BBS的证据，并扩大了突变谱。