identification of a novel compound heterozygous mutation in bbs12 in an iranian family with bardet-biedl syndrome using targeted next generation sequencing

Bardet-biedl syndrome (bbs) is a pleiotropic and multisystemic disorder characterized by rod-cone dystrophy, polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. this disorder is genetically heterogeneous. until now, a total of nineteen genes have been identified for bbs whose mutations explain more than 80% of diagnosed cases. recently, the development of next generation sequencing (ngs) technology has accelerated mutation screening of target genes, resulting in lower cost and less time consumption. here, we screened the most common bbs genes (bbs1-bbs13) using ngs in an iranian family of a proposita displaying symptoms of bbs. among the 18 mutations identified in the proposita, one (bbs12 c.56t>g and bbs12 c.1156c>t) was novel. this compound heterozygosity was confirmed by sanger sequencing in the proposita and her parents. although our data were presented as a case report, however, we suggest a new probable genetic mechanism other than the conventional autosomal recessive inheritance of bbs. additionally, given that in some iranian provinces, like khuzestan, consanguineous marriages are common, designing mutational panels for genetic diseases is strongly recommended, especially for those with an autosomal recessive inheritance pattern