Ontology highlight
ABSTRACT:
SUBMITTER: Borck G
PROVIDER: S-EPMC3035704 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
Borck Guntram G Ur Rehman Atteeq A Lee Kwanghyuk K Lee Kwanghyuk K Pogoda Hans-Martin HM Kakar Naseebullah N von Ameln Simon S Grillet Nicolas N Hildebrand Michael S MS Ahmed Zubair M ZM Nürnberg Gudrun G Ansar Muhammad M Basit Sulman S Javed Qamar Q Morell Robert J RJ Nasreen Nabilah N Shearer A Eliot AE Ahmad Adeel A Kahrizi Kimia K Shaikh Rehan S RS Ali Rana A RA Khan Shaheen N SN Goebel Ingrid I Meyer Nicole C NC Kimberling William J WJ Webster Jennifer A JA Stephan Dietrich A DA Schiller Martin R MR Bahlo Melanie M Najmabadi Hossein H Gillespie Peter G PG Nürnberg Peter P Wollnik Bernd B Riazuddin Saima S Smith Richard J H RJ Ahmad Wasim W Müller Ulrich U Hammerschmidt Matthias M Friedman Thomas B TB Riazuddin Sheikh S Leal Suzanne M SM Ahmad Jamil J Kubisch Christian C
American journal of human genetics 20110120 2
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 homozygosity at this locus, we detected ILDR1 mutations in the affected individuals of 10 ...[more]