FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome
FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome
复制标题
FBN3基因参与中国Bardet-Biedl综合征家系发病机制
DOI：
10.18632/oncotarget.21415
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发表时间：
2017-10-17
期刊：
影响因子：
--
通讯作者：
Liu, Xuyang
中科院分区：
文献类型：
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作者：
Wang, Yun;Garraoui, Abir;Liu, Xuyang
目的：对一个Bardet-Biedl综合征(BBS)家系进行分子遗传学研究。对两个患病个体及其父母进行了全外显子组测序。结果：该家系诊断为Bardet-Biedl综合征，遗传方式为常染色体隐性遗传。通过全外显子测序鉴定出FBN3基因的复合杂合性突变(c.3616G>；A和c.6037C>；T)。Sanger测序结果显示，FBN3基因的这些复合杂合突变与BBS病家系中存在共分离。结论：在所有患病个体中都发现了FBN3的新的复合杂合突变c.3616G>；A和c.6037C>；T，而在未患病的家庭成员中没有发现。据我们所知，FBN3基因参与BBS的发病机制尚属首次。这项研究将扩大我们对这种遗传异质性疾病相关基因谱的理解。
Purpose: This study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS).Methods: 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.Results: Patients in this family were diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive. Compound heterozygous mutations of the FBN3 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 FBN3 gene with BBS disease in the family.Conclusion: Novel compound heterozygous mutations c.3616G>A and c.6037C>T of FBN3 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 FBN3 gene is involved in the pathogenesis of BBS. This study will expand our understanding about the gene spectrum related to this genetically heterogeneous disorder.