Genetics of Hearing Loss--Nonsyndromic.
Eighty percent of nonsyndromic hearing losses are caused by autosomal-recessive (AR) inheritance, while most of the other 20% are caused by autosomal-dominant (AD) inheritance. Although AR nonsyndromic SNHL is most commonly caused by GJB2 and SLC26A4, there is no single gene that accounts for any significant proportion of AD SNHL. High-throughput sequencing techniques, also called next-generation sequencing (NGS) or massively parallel sequencing (MPS), may allow for routine definitive diagnosis of all possible genetic causes for hearing loss in the not-too-distant future.
Department of Otolaryngology, Stanford University, 801 Welch Road, Stanford, CA 94305, USA. Electronic address: kchang@ohns.stanford.edu.
Kay W
KW
Chang
D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D008040:Genetic Linkage; D034381:Hearing Loss / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D000076988:Sulfate Transporters
D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26
DFNA; DFNB; GJB2; Massively parallel sequencing; Next-generation sequencing; Nonsyndromic hearing loss