Abstract
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod-cone dystrophy, and mental retardation. Twenty-one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole-exome sequencing on one patient. We identified a novel homozygous variant c.1114C>T (p.Q372X) in the BBS9 of the two siblings. This variant was confirmed and completely cosegregated with the disease of this family by Sanger sequencing. We report a novel homozygous variant c.1114C>T in the BBS9 gene in a Chinese family.
Highlights
Bardet-Biedl syndrome (BBS) is a rare multisystem disorder exhibiting clinical and genetic heterogeneity
BBS is inherited in an autosomal recessive manner
The proteins encoded by the BBS gene family members are structurally diverse, and the similar phenotypes exhibited by mutations in BBS gene family members are likely due to their shared roles in cilia formation and function
Summary
Bardet-Biedl syndrome (BBS) is a rare multisystem disorder exhibiting clinical and genetic heterogeneity. It is characterized by childhood-onset rod-cone dystrophy, postaxial polydactyly, truncal obesity, intellectual disability, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal dysfunction. The incidence of BBS in the Chinese population has not yet been reported. Twenty-one genes have been reported to cause BBS. Most BBS-related genes are involved in ciliary function. BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins are involved in intracellular trafficking via microtubule-related transport [1,2,3,4,5,6,7,8,9]
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