Article
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
Human molecular genetics - 1 Nov 2014
Xie Yajing Angela, Lee Winston, Cai Carolyn, Gambin Tomasz, Nõupuu Kalev, Sujirakul Tharikarn, Ayuso Carmen, Jhangiani Shalini, Muzny Donna, Boerwinkle Eric, Gibbs Richard, Greenstein Vivienne C, Lupski James R, Tsang Stephen H, Allikmets Rando
Abstract excerpt
Retinitis pigmentosa (RP), a genetically heterogeneous group of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutations in ∼100 genes. Although recent advances in next-generation sequencing have aided in the discovery of novel RP genes, a number of the underlying contributing genes and loci remain to be identified. We investigated three siblings, born to asymptomatic parents of...
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