Ontology highlight
ABSTRACT:
SUBMITTER: Seco CZ
PROVIDER: S-EPMC4297911 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Seco Celia Zazo CZ Oonk Anne M M AM Domínguez-Ruiz María M Draaisma Jos M T JM Gandía Marta M Oostrik Jaap J Neveling Kornelia K Kunst Henricus P M HP Hoefsloot Lies H LH del Castillo Ignacio I Pennings Ronald J E RJ Kremer Hannie H Admiraal Ronald J C RJ Schraders Margit M
European journal of human genetics : EJHG 20140430 2
In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by the two affected siblings on chromosome 6p21.1-q15. This region contains 247 genes including the known deafness gene MYO6. No pathogenic variants were found in MYO6, neither with sequence analysis of the coding region and splice sites nor with mRNA analysis. Subsequent candidate gene evaluation revealed CLIC5 as an excellent candidate gene. ...[more]