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Titel:

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
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;...     »
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...     »
Zeitschriftentitel:
Hum Mutat
Jahr:
2020
Band / Volume:
41
Heft / Issue:
5
Seitenangaben Beitrag:
998-1011
Volltext / DOI:
doi:10.1002/humu.23993
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/31999394
Print-ISSN:
1059-7794
TUM Einrichtung:
617; Institut für Humangenetik
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