Article
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Human mutation - 1 May 2020
Ascari Giulia, Peelman Frank, Farinelli Pietro, Rosseel Toon, Lambrechts Nina, Wunderlich Kirsten A, Wagner Matias, Nikopoulos Konstantinos, Martens Pernille, Balikova Irina, Derycke Lara, Holtappels Gabriële, Krysko Olga, Van Laethem Thalia, De Jaegere Sarah, Guillemyn Brecht, De Rycke Riet, De Bleecker Jan, Creytens David, Van Dorpe Jo, Gerris Jan, Bachert Claus, Neuhofer Christiane, Walraedt Sophie, Bischoff Almut, Pedersen Lotte B, Klopstock Thomas, Rivolta Carlo, Leroy Bart P, De Baere Elfride, Coppieters Frauke
Abstract excerpt
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized the first CEP78 missense variant c.449T>C, p.(Leu150Ser) in three CRDHL families. The variant was found in a biallelic state in two Belgian families and in a compound heterozygous state-in trans...
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