Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

doi:10.1016/j.ajhg.2010.12.011

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Article

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

American journal of human genetics - 11 Feb 2011

Borck Guntram, Ur Rehman Atteeq, Lee Kwanghyuk, Pogoda Hans-Martin, Kakar Naseebullah, von Ameln Simon, Grillet Nicolas, Hildebrand Michael S, Ahmed Zubair M, Nürnberg Gudrun, Ansar Muhammad, Basit Sulman, Javed Qamar, Morell Robert J, Nasreen Nabilah, Shearer A Eliot, Ahmad Adeel, Kahrizi Kimia, Shaikh Rehan S, Ali Rana A, Khan Shaheen N, Goebel Ingrid, Meyer Nicole C, Kimberling William J, Webster Jennifer A, Stephan Dietrich A, Schiller Martin R, Bahlo Melanie, Najmabadi Hossein, Gillespie Peter G, Nürnberg Peter, Wollnik Bernd, Riazuddin Saima, Smith Richard J H, Ahmad Wasim, Müller Ulrich, Hammerschmidt Matthias, Friedman Thomas B, Riazuddin Sheikh, Leal Suzanne M, Ahmad Jamil, Kubisch Christian

Abstract excerpt

By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus. Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment. By analyzing additional consanguineous families with...

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Identifiers

PMID: 21255762
DOI: 10.1016/j.ajhg.2010.12.011
PMCID: PMC3035704

Genes

ILDR1

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