Ontology highlight
ABSTRACT:
SUBMITTER: Zazo Seco C
PROVIDER: S-EPMC4667106 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Zazo Seco Celia C Serrão de Castro Luciana L van Nierop Josephine W JW Morín Matías M Jhangiani Shalini S Verver Eva J J EJ Schraders Margit M Maiwald Nadine N Wesdorp Mieke M Venselaar Hanka H Spruijt Liesbeth L Oostrik Jaap J Schoots Jeroen J van Reeuwijk Jeroen J Lelieveld Stefan H SH Huygen Patrick L M PL Insenser María M Admiraal Ronald J C RJ Pennings Ronald J E RJ Hoefsloot Lies H LH Arias-Vásquez Alejandro A de Ligt Joep J Yntema Helger G HG Jansen Joop H JH Muzny Donna M DM Huls Gerwin G van Rossum Michelle M MM Lupski James R JR Moreno-Pelayo Miguel Angel MA Kunst Henricus P M HP Kremer Hannie H
American journal of human genetics 20151029 5
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286_303delinsT (p.Ser96Ter), in KITLG. This mutation co-segregated with NS-UHL/AHL as a dominant trait with reduced penetrance. By screening a panel of probands with NS-UHL/AHL, we found an additional mutation, c.200_202del (p.His67_Cys68delinsArg). In vitro studies revealed that the p.H ...[more]