Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.

Molecular Genetics & Genomic Medicine
Safoura ZardadiMasoud Garshasbi

Abstract

Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with autosomal recessive nonsyndromic HL (ARNSHL). Herein, we subjected two patients with bilateral sensorineural HL in two distinct consanguineous Iranian families to figure out the underlying genetic factors. Physical and sensorineural examinations were performed on the patients. Imaging also was applied to unveil any abnormalities in anatomical structures of the middle and inner ear. In order to decipher the possible genetic causes of the verified GJB2-negative samples, the probands were subjected to whole-exome sequencing and, subsequently, Sanger sequencing was applied for variant confirmation. Clinical examinations showed ARNSHL in the patients. After doing whole exome sequencing, two novel variants were identified that were co-segregating with HL that were absent in 100 ethnically matched controls. In the first family, a novel homozygous variant, NM_138691.2: c.530T>C; p.(lle177Thr), in TMC1 gene co-segregated with prelingual ARNSHL. In the second family, NM_022124.6: c.2334G>A; p.(Trp778*) was reported as a nonsense variant causing prelingual ARNSHL. These findings can, in turn, e...Continue Reading

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Citations

May 15, 2021·Journal of Cellular and Molecular Medicine·Mohammad FarhadiMasoumeh Falah

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Methods Mentioned

BETA
PCR
glycosylation
Exon Sequencing

Software Mentioned

gnomAD
ScanProsite
SIFT
Provean
TASSER
ConSurf browser
Polyphen
MutationsTaster
MutationTaster
Sequencher

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