Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment.

ABSTRACT: Hearing impairment (HI) is a heterogeneous condition that affects many individuals globally with different age groups. HI is a genetically and phenotypically heterogeneous disorder. Over the last several years, many genes/loci causing rare autosomal recessive and dominant forms of hearing impairments have been identified, involved in various aspects of ear development. In the current study, two affected individuals of a consanguineous family exhibiting autosomal recessive nonsyndromic hearing impairment (AR-NSHI) were clinically and genetically characterized. The single affected individual (IV-2) of the family was subjected to whole-exome sequencing (WES) accompanied by traditional Sanger sequencing. Clinical examinations using air conduction audiograms of both the affected individuals sho

SUBMITTER: Kakar MU 

PROVIDER: S-EPMC9202841 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature