Article
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Human molecular genetics - 15 Oct 2016
Bedoni Nicola, Haer-Wigman Lonneke, Vaclavik Veronika, Tran Viet H, Farinelli Pietro, Balzano Sara, Royer-Bertrand Beryl, El-Asrag Mohammed E, Bonny Olivier, Ikonomidis Christos, Litzistorf Yan, Nikopoulos Konstantinos, Yioti Georgia G, Stefaniotou Maria I, McKibbin Martin, Booth Adam P, Ellingford Jamie M, Black Graeme C, Toomes Carmel, Inglehearn Chris F, Hoyng Carel B, Bax Nathalie, Klaver Caroline C W, Thiadens Alberta A, Murisier Fabien, Schorderet Daniel F, Ali Manir, Cremers Frans P M, Andréasson Sten, Munier Francis L, Rivolta Carlo
Abstract excerpt
Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the...
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