Article
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
American journal of human genetics - 5 Nov 2015
Zazo Seco Celia, Serrão de Castro Luciana, van Nierop Josephine W, Morín Matías, Jhangiani Shalini, Verver Eva J J, Schraders Margit, Maiwald Nadine, Wesdorp Mieke, Venselaar Hanka, Spruijt Liesbeth, Oostrik Jaap, Schoots Jeroen, van Reeuwijk Jeroen, Lelieveld Stefan H, Huygen Patrick L M, Insenser María, Admiraal Ronald J C, Pennings Ronald J E, Hoefsloot Lies H, Arias-Vásquez Alejandro, de Ligt Joep, Yntema Helger G, Jansen Joop H, Muzny Donna M, Huls Gerwin, van Rossum Michelle M, Lupski James R, Moreno-Pelayo Miguel Angel, Kunst Henricus P M, Kremer Hannie
Abstract excerpt
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...
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