Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 …
Abstract Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy
characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities,
genital abnormalities and learning difficulties. To date, mutations in 21 different genes have
been described as being responsible for BBS. Recently sequential gene sequencing has
been replaced by next generation sequencing (NGS) applications. In this study, 15 patients
with clinically diagnosed BBS were investigated using a next generation sequencing panel …
characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities,
genital abnormalities and learning difficulties. To date, mutations in 21 different genes have
been described as being responsible for BBS. Recently sequential gene sequencing has
been replaced by next generation sequencing (NGS) applications. In this study, 15 patients
with clinically diagnosed BBS were investigated using a next generation sequencing panel …