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

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...

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Bibliographic Details
Main Authors: Sima Rayat, Mohammad Farhadi, Hessamaldin Emamdjomeh, Saeid Morovvati, Masoumeh Falah
Format: Article
Language:English
Published: BMC 2022-06-01
Series:BMC Medical Genomics
Subjects:
Hearing loss
DFNB6
TMIE
Whole-exome sequencing
CNV
Online Access:https://doi.org/10.1186/s12920-022-01287-9

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