Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet-Biedl syndrome

被引:3
作者
Tao, Tianchang [1 ,2 ,3 ]
Liu, Jia [1 ,2 ,3 ]
Wang, Bin [4 ]
Pang, Jijing [4 ]
Li, Xiaoxin [1 ,2 ,3 ,4 ]
Huang, Lvzhen [1 ,2 ,3 ]
机构
[1] Peking Univ Peoples Hosp, Eye Dis & Optometry Inst, Dept Ophthalmol, Beijing, Peoples R China
[2] Peking Univ Peoples Hosp, Dept Ophthalmol, Beijing Key Lab Diag & Therapy Retinal & Choroid, Beijing, Peoples R China
[3] Peking Univ Hlth Sci Ctr, Coll Optometry, Beijing, Peoples R China
[4] Xiamen Univ, Eye Res Inst, Xiamen Eye Ctr, Xiamen, Peoples R China
基金
中国国家自然科学基金;
关键词
Bardet-Biedl syndrome; ocular features; mutation spectrum; phenotypic heterogeneity; ciliopathy; HIRSCHSPRUNGS-DISEASE; VARIANTS; PROTEIN;
D O I
10.1177/11206721221136324
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Purpose Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive inherited disorder characterized by multisystem anomalies. The objective of this study was to detect and analyse pathogenic variants in four Chinese families with BBS. Methods Comprehensive clinical examinations were performed to investigate and evaluate the phenotypes of the affected individuals from four families. Genomic DNA was extracted from peripheral blood. Next-generation sequencing (NGS) was performed for four families, and the presence of pathogenic variants was confirmed via Sanger sequencing. Results There were two males and three females with a mean age of 16.00 years. All probands displayed the primary clinical features of BBS. Mutation screening demonstrated four novel mutations: c.613C>T; p.Q205* in the BBS5 gene, c.1391C>G; p.S464* in the BBS10 gene, and c.155delC; p.S52* and c.1584T>G; p.Y528* in the BBS12 gene. Two previously reported mutations were also identified, including c.534 + 1G>T in the BBS2 gene and c.539G>A; p.G180E in the BBS10 gene. The bioinformatic analysis revealed that all the detected mutations in BBS genes were disease causing. Conclusions This study identified four novel BBS gene mutations in these Chinese families and further expanded the genotypic spectrum of BBS, thus contributing to the literature and understanding of this multisystem disease.
引用
收藏
页码:714 / 722
页数:9
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