… 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 …

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

… , 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 …

… 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 …

… with autosomal dominant (20%–25%), autosomal recessive (… A total of 32.5% of the patients
with hearing loss in our study … caused by GJB2, SLC26A4, and mtDNA 12S rRNA mutations, …

… mutations in both the SLC26A3 and SLC26A4 genes, … of two rare autosomal recessive
disorders with loss of function of … congenital sensory (cochlear) hearing loss varies and the inner …

… to both the formation of autosomal recessive deafness type 4 (… correlation of hearing loss
patients caused by SLC26A4 mutations in … of hearing impairment associated with nonsyndromic …

… autosomal recessive non-syndromic hearing loss (ARNSHL), after GJB2. Over 500 different
SLC26A4 mutations … and EVA: identification of two novel mutations in Brazilian patients. Int J …