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

Autor: 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

Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

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.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::e06fc741661de572cb48c9fd02e6db12
https://hdl.handle.net/20.500.12530/20262

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

Autor: Zazo Seco C; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Serrão de Castro L; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Madrid 28034, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28034, Spain., van Nierop JW; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Morín M; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Madrid 28034, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28034, Spain., Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Verver EJ; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Schraders M; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Maiwald N; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Wesdorp M; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Spruijt L; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Oostrik J; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Schoots J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Lelieveld SH; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Huygen PL; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Insenser M; Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria, Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas, Madrid 28034, Spain., Admiraal RJ; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Pennings RJ; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Hoefsloot LH; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Arias-Vásquez A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Psychiatry, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Cognitive Neuroscience, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., de Ligt J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Jansen JH; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Hematology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Huls G; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Hematology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., van Rossum MM; Department of Dermatology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Moreno-Pelayo MA; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Madrid 28034, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28034, Spain., Kunst HP; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands., Kremer H; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands. Electronic address: hannie.kremer@radboudumc.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2015 Nov 05; Vol. 97 (5), pp. 647-60. Date of Electronic Publication: 2015 Oct 29.