Article
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
International journal of molecular sciences - 6 Dec 2022
Klarov Leonid A, Pshennikova Vera G, Romanov Georgii P, Cherdonova Aleksandra M, Solovyev Aisen V, Teryutin Fedor M, Luginov Nikolay V, Kotlyarov Petr M, Barashkov Nikolay A
Abstract excerpt
Pathogenic variants in the SLC26A4, FOXI1, and KCNJ10 genes are associated with hearing loss (HL) and specific inner ear abnormalities (DFNB4). In the present study, phenotype analyses, including clinical data collection, computed tomography (CT), and audiometric examination, were performed on deaf individuals from the Sakha Republic of Russia (Eastern Siberia). In cases with cochleovestibular malformations,...
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