Ontology highlight
ABSTRACT:
SUBMITTER: Ascari G
PROVIDER: S-EPMC7187288 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Ascari Giulia G Peelman Frank F Farinelli Pietro P Rosseel Toon T Lambrechts Nina N Wunderlich Kirsten A KA Wagner Matias M Nikopoulos Konstantinos K Martens Pernille P Balikova Irina I Derycke Lara L Holtappels Gabriële G Krysko Olga O Van Laethem Thalia T De Jaegere Sarah S Guillemyn Brecht B De Rycke Riet R De Bleecker Jan J Creytens David D Van Dorpe Jo J Gerris Jan J Bachert Claus C Neuhofer Christiane C Walraedt Sophie S Bischoff Almut A Pedersen Lotte B LB Klopstock Thomas T Rivolta Carlo C Leroy Bart P BP De Baere Elfride E Coppieters Frauke F
Human mutation 20200212 5
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 with c.1462-1G>T-in a third German family. Haplotype reconstruction showed a founder ...[more]