Role of connexin 26 (GJB2) & mitochondrial small ribosomal RNA (mt 12S rRNA) genes in sporadic & aminoglycoside-induced non syndromic hearing impairment.
Non syndromic hearing impairment is a common sensory disorder, which affects one in 600 newborns. Though more than 50 nuclear genes are involved in causing non syndromic hearing impairment, mutations in the connexin 26 (GJB2) gene explain a high proportion of congenital deafness in several populations worldwide. The diversity of genes and genetic loci implicated in hearing loss defines the complexity of the genetic basis of hearing. This review focuses on the role of connexin 26 and mitochondrial 12S rRNA genes in hearing which will be helpful for better understanding of genes in sporadic and aminoglycoside-induced non syndromic hearing impairment.
Lingala
Hema Bindu
HB
Department of Environmental Toxicology, Institute of Genetics & Hospital for Genetic Diseases Osmania University, Hyderabad, India. hbindurao@gmail.com
Penagaluru
Pardhanandana Reddy
PR
D000617:Aminoglycosides / Q000009:adverse effects*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D003638:Deafness / Q000139:chemically induced / Q000235:genetics; D006309:Hearing / Q000502:physiology; D034381:Hearing Loss / Q000139:chemically induced / Q000235:genetics; D006801:Humans; D008928:Mitochondria / Q000235:genetics*; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics* / Q000378:metabolism
D000617:Aminoglycosides; D017630:Connexins; C000607042:GJB2 protein, human; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D000072259:Connexin 26