A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of bardet-biedl or McKusick-Kaufman syndrome

Purpose To identify the causative mutation in two siblings from a consanguineous family in India with retinitis pigmentosa (RP) and polydactyly without other findings of Bardet-Biedl syndrome (BBS). We also performed functional characterization of the mutant protein to explore its role in this limited form of BBS.