Ontology highlight
ABSTRACT:
SUBMITTER: Ramzan M
PROVIDER: S-EPMC7709079 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Ramzan Memoona M Idrees Hafiza H Mujtaba Ghulam G Sobreira Nara N Witmer P Dane PD Naz Sadaf S
Gene 20190424
Variants of KCNQ4 are one of the most common causes of dominantly inherited nonsyndromic hearing loss. We investigated a consanguineous family in which two individuals had prelignual hearing loss, apparently inherited in a recessive mode. Whole-exome sequencing analyses demonstrated genetic heterogeneity as variants in two different genes segregated with the phenotype in two branches of the family. Members in one branch were homozygous for a pathogenic variant of TMC1. The other two affected ind ...[more]