Article
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Human mutation - 1 Jan 2018
Fiorentino Alessia, Fujinami Kaoru, Arno Gavin, Robson Anthony G, Pontikos Nikolas, Arasanz Armengol Monica, Plagnol Vincent, Hayashi Takaaki, Iwata Takeshi, Parker Matthew, Fowler Tom, Rendon Augusto, Gardner Jessica C, Henderson Robert H, Cheetham Michael E, Webster Andrew R, Michaelides Michel, Hardcastle Alison J
Abstract excerpt
Retinal dystrophies are a heterogeneous group of disorders of visual function leading to partial or complete blindness. We report the genetic basis of an unusual retinal dystrophy in five families with affected females and no affected males. Heterozygous missense variants were identified in the X-linked phosphoribosyl pyrophosphate synthetase 1 (PRPS1) gene: c.47C > T, p.(Ser16Phe); c.586C > T, p.(Arg196Trp);...
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