Urology Medical News about Bardet-Biedl syndrome

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Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping
Journal of Medical Genetics, 10/12/09

Harville HM et al. – Bardet–Biedl syndrome (BBS) is primarily an autosomal recessive disorder characterized by rod–cone dystrophy, obesity, hypogonadism, post–axial polydactyly, renal cysts, and other anomalies of the kidney and urinary tract. Thus, in the presence of extreme genetic locus heterogeneity, homozygosity mapping provides a valuable approach to the molecular genetic diagnosis of BBS and will facilitate the discovery of novel pathogenic mutations.

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