Ontology highlight
ABSTRACT:
SUBMITTER: Bademci G
PROVIDER: S-EPMC4999867 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Bademci G G Cengiz F B FB Foster Ii J J Duman D D Sennaroglu L L Diaz-Horta O O Atik T T Kirazli T T Olgun L L Alper H H Menendez I I Loclar I I Sennaroglu G G Tokgoz-Yilmaz S S Guo S S Olgun Y Y Mahdieh N N Bonyadi M M Bozan N N Ayral A A Ozkinay F F Yildirim-Baylan M M Blanton S H SH Tekin M M
Scientific reports 20160826
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while non ...[more]