… in the GJB2 gene (13q12.11, OMIM 121011) encoding transmembrane protein connexin
26 result in the nonsyndromic autosomal recessive deafness 1A (DFNB1A, OMIM 220290), …

… dominant (DFNA), autosomal recessive (DFNB), or X-linked (DFNX) [3]. Autosomal recessive
nonsyndromic hearing loss 1A (DFNB1A, OMIM 220290), caused by pathogenic variants in …

… ) is an autosomal recessive disorder, usually characterized … , or so-called nonsyndromic
hearing loss with EVA [NSEVA]), … PS/NSEVA patients with hearing loss admitted to our tertiary …

… organs and tissues, or nonsyndromic, which is not … Nonsyndromic hearing loss phenotypes
and loci can be categorized as autosomal dominant (termed DFNA), autosomal recessive (…

… Pendred syndrome (PS) and autosomal recessive NSHL are … prevalence of mutations in
four common hearing loss-related … SLC26A4 and GJB2 gene mutations are the primary causes …

… , ie, approximately 120 genes, have been reported in non-syndromic hearing loss (NSHL)
[4]. … deafness genes, mutations in the autosomal recessive deafness genes GJB2, SLC26A4 …

… non-syndromic hearing loss (NSHL), and approximately 80% of NSHL are caused by
autosomal recessive … In this study, it was found that the most common mutation in SLC26A4 was …

… Therefore, this study demonstrates that the novel mutation c.… (EVA) is an autosomal recessive
disease characterized by … had no symptoms associated with EVA or hearing impairment…

… hearing loss and no GJB2 mutations. In addition, we reviewed all reported SLC26A4 missense
mutations … The SLC26A4 gene has been involved in nonsyndromic HHL (DFNB4) and PS …

… EVA is a genetically autosomal recessive disorder. Subjects with bi-allelic … Therefore,
the novel mutation discovered in this study may be closely related to hearing loss (29,30). …