Ontology highlight
ABSTRACT:
SUBMITTER: Schraders M
PROVIDER: S-EPMC3487128 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Schraders Margit M Ruiz-Palmero Laura L Kalay Ersan E Oostrik Jaap J del Castillo Francisco J FJ Sezgin Orhan O Beynon Andy J AJ Strom Tim M TM Pennings Ronald J E RJ Zazo Seco Celia C Oonk Anne M M AM Kunst Henricus P M HP Domínguez-Ruiz María M García-Arumi Ana M AM del Campo Miguel M Villamar Manuela M Hoefsloot Lies H LH Moreno Felipe F Admiraal Ronald J C RJ del Castillo Ignacio I Kremer Hannie H
American journal of human genetics 20121101 5
Already 40 genes have been identified for autosomal-recessive nonsyndromic hearing impairment (arNSHI); however, many more genes are still to be identified. In a Dutch family segregating arNSHI, homozygosity mapping revealed a 2.4 Mb homozygous region on chromosome 11 in p15.1-15.2, which partially overlapped with the previously described DFNB18 locus. However, no putative pathogenic variants were found in USH1C, the gene mutated in DFNB18 hearing impairment. The homozygous region contained 12 a ...[more]