Clinical and Genetic Analysis of a Compound Heterozygous Mutation in the BBS10 Gene in Chinese People With Bardet Biedl syndrome

Background Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, obesity, and polydactyly as cardinal features. This study aimed to characterize the clinical manifestations and genetic basis in a Chinese patient with BBS. Methods The study subject was a 23-year-old Han Chinese male who presented to the Maternal and Child Health Hospital of Luoyang City, Henan Province, seeking pre-pregnancy counseling. The patient had a history of obesity since childhood, progressive bilateral vision loss, and polydactyly affecting both hands and feet. A detailed medical history was obtained, and physical examination, laboratory tests, and radiological imaging were performed. Peripheral venous blood was collected for whole-exome sequencing (WES) to screen for candidate pathogenic mutations. Results Whole-exome sequencing (WES) identified two novel mutations in the BBS10 gene: c.83_84delinsAG (p.Cys28Ter) in exon 1 and c.1063C > T (p.Gln355Ter) in exon 2. Both are nonsense mutations predicted to result in a truncated protein and loss of function. Sanger sequencing confirmed both variants. Conclusions In this study, we successfully identified two novel mutations in the BBS10 gene in a Chinese patient with BBS, expanding the mutational spectrum of the disorder and providing new genetic variants for BBS research and clinical diagnosis. This finding underscores the utility of whole-exome sequencing (WES) in pinpointing disease-causing mutations in rare genetic disorders and offers novel insights into the pathogenesis of BBS.