Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.

ABSTRACT:

Background

Transmembrane inner ear (TMIE) protein is an essential component of the mechanotransduction complex. In collaboration with other components, TMIE aids the maintenance and function of the sensory hair cells. Autosomal recessive deafness-6 (DFNB6) is caused by mutated TMIE, a gene in the high genetic heterogeneity spectrum of deafness. Hearing loss has a significant impact on the global economy and the quality of life of affected persons, their families, and society. Here, three unrelated families with TMIE variants are presented. All three cases were found while studying the genetic causes of an Iranian cohort of subjects with cochlear implants.

Methods

Whole exome sequencing was performed to find possible genetic etiology in probands of families after a comprehens

SUBMITTER: Rayat S 

PROVIDER: S-EPMC9204965 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature