Kay_Chang_MD

Kay W. Chang, MD, a clinician-scientist in the Stanford Initiative to Cure Hearing Loss, recently published an article in Otolaryngologic Clinics on the genetics of non-syndromic hearing loss.

This is a review paper which summarizes the current state of knowledge in regard to types of non-syndromic hearing loss genetics and sequencing techniques.

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.