Hayat Amir, Khan Atif Ahmad, Rauf Abdur, Khan Saad Ullah, Hussain Shabir, Ullah Asmat, Ahmad Wasim, Shams Sulaiman, Khan Bushra
Department of Biochemistry, Faculty of Life and Chemical Sciences, Abdul Wali khan University, Mardan.
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, KPK.
Clin Dysmorphol. 2020 Jan;29(1):17-23. doi: 10.1097/MCD.0000000000000294.
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.
巴德-比埃尔综合征（BBS）具有六大主要特征：轴后多指畸形、肥胖、学习障碍、肾脏异常、色素性视网膜炎和性腺功能减退，呈常染色体隐性遗传。BBS是由迄今已鉴定出的22个BBS基因中的致病序列变异引起的。在本研究中，对一个患有BBS的巴基斯坦近亲家庭进行了临床和遗传学特征分析。在确定与4号染色体q27上的一个BBS基因连锁后，对所有可用的患病和未患病成员进行了桑格测序。BBS7基因的序列分析揭示了新的替代突变（c.719G>T；p.Gly240Val）。我们的研究结果进一步扩展了表明BBS7导致BBS的证据，并扩大了突变谱。
