Molecular Genetic Analysis Of A Bardet-biedl Syndrome Family

Bardet-Biedl syndrome is a inherited retinal degeneralion diseases with multisystem disorder.BBS is a rare autosomal recessive disorder with clinical and genetic heterogeneity. The main features are retinitis pigmentosa,obesity, intellectual impairment, post-axial polydactyly,hypogonadism, and renal abnormalities.Purpose: The purpose of this study was to identify the clinical features and genic mutations in a Chinese family with Bardet-Biedl Syndrome.Methods:1. All the family members were studied with medical history, ophthalmologic examinations,and whole body physical examinations.2. Venous blood was collected from research subjects and genomic DNA was extracted.3. To screen the Candidate gene BBSl, primers were designed for the exon and direct sequencing were performed after PCR. Then the results were compared and evaluated with reference databases.4. All exons of the affected and normal individuals included in this study were analyzed by Exome sequencing.Results:Patient in this family can be diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive. The screening of gene BBSl was negative. All exons of the affected and normal individuals were analyzed by Exome sequencing. A heterozygous mutation of FBN3,c.3616G>Aå’Œc.6037C>T,was identified.Conclusion:A novel mutation c.3616G>Aå’Œc.6037C>T of FBN3 was identified in all affected individuals.The disease-causing mutatin was first reported in the world up to date which enriched the database of human BBS genic mutation.