Wang Yun, Garraoui Abir, Zeng Liuzhi, Lai Mingying, He Fen, Wang Huaizhou, Jiang Chongyi, Chen Yulan, Dai Lanlan, Fan Ning, Yang Huanming, Zhang Jianguo, Liu Xuyang
Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen University, Shenzhen, China.
BGI-Shenzhen, Shenzhen, China.
Oncotarget. 2017 Sep 30;8(49):86718-86725. doi: 10.18632/oncotarget.21415. eCollection 2017 Oct 17.
This study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS).
All the family members underwent medical history evaluation, ophthalmologic and physical examinations. Whole exome sequencing was performed on two affected individuals and their parents. All variants were verified in all family members by PCR amplification and Sanger sequencing.
Patients in this family were diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive. Compound heterozygous mutations of the gene (c.3616G>A and c.6037C>T) were identified by whole exome sequencing. Results from Sanger sequencing showed co-segregation of these compound heterozygous mutations in the gene with BBS disease in the family.
Novel compound heterozygous mutations c.3616G>A and c.6037C>T of were identified in all affected individuals but not in the unaffected family members. This is the first time to the best of our knowledge, that the gene is involved in the pathogenesis of BBS. This study will expand our understanding about the gene spectrum related to this genetically heterogeneous disorder.
本研究旨在评估一个患有巴德-比德尔综合征（BBS）的中国家庭的分子遗传学。
所有家庭成员均接受病史评估、眼科和体格检查。对两名患病个体及其父母进行了全外显子组测序。通过PCR扩增和桑格测序在所有家庭成员中验证所有变异。
该家庭中的患者被诊断为巴德-比德尔综合征，遗传模式为常染色体隐性遗传。通过全外显子组测序鉴定出该基因的复合杂合突变（c.3616G>A和c.6037C>T）。桑格测序结果显示，该基因中的这些复合杂合突变与该家庭中的BBS疾病共分离。
在所有患病个体中鉴定出该基因新的复合杂合突变c.3616G>A和c.6037C>T，而未患病的家庭成员中未发现。据我们所知，这是首次发现该基因参与BBS的发病机制。本研究将扩大我们对与这种基因异质性疾病相关的基因谱的理解。
