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

Molecular Vision 2016, 22:73-81, 24 January 2016

John D. Hulleman, Annie Nguyen, V.L. Ramprasad, Sakthivel Murugan, Ravi Gupta, Avinash Mahindrakar, Ravi Angara, Chandrasekhar Sankurathri, V. Vinod Mootha

Retinitis pigmentosa (RP) is the most common inherited form of retinal degeneration, affecting nearly 1/4,000 individuals [1]. RP is caused by progressive rod photoreceptor degeneration ultimately leading to peripheral vision loss, night blindness, and, sometimes, complete blindness. Mutations in more than 50 genes have been identified to cause nonsyndromic RP, while mutations in a smaller subset of genes have been found to cause syndromic RP (i.e., RP combined with additional symptoms in other tissues/organs). Common forms of syndromic RP include Usher syndrome [2], Refsum disease [3], and Bardet-Biedl syndrome (BBS) [4]. Of these disorders, BBS is one of the most studied.


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