User: Guest  Login
Document type:
Journal Article; Research Support, Non-U.S. Gov't 
Author(s):
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;...    »
 
Title:
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. 
Abstract:
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...    »
 
Journal title abbreviation:
Hum Mutat 
Year:
2020 
Journal volume:
41 
Journal issue:
Pages contribution:
998-1011 
Fulltext / DOI:
Print-ISSN:
1059-7794 
TUM Institution:
617; Institut für Humangenetik