Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

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...

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Veröffentlicht in:	American journal of human genetics 2015-11, Vol.97 (5), p.647-660
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Female Fluorescent Antibody Technique Genetic disorders Genetic Linkage Genotype & phenotype Hearing loss Hearing Loss, Unilateral - genetics Hearing Loss, Unilateral - metabolism Hearing Loss, Unilateral - pathology Humans Ligands Male Mice Mutation Mutation - genetics NIH 3T3 Cells Pedigree Phenotype Prognosis Real-Time Polymerase Chain Reaction Reverse Transcriptase Polymerase Chain Reaction RNA, Messenger - genetics Stem Cell Factor - genetics Waardenburg Syndrome - genetics Waardenburg Syndrome - metabolism Waardenburg Syndrome - pathology
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