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hereditary nonsyndromic hearing loss

Genetics: - autosomal recessive or autosomal dominant - associated with defects in GJB2 (connexin-26) & GJB6 (connexin-30) Clinical manifestations: see sensorineural hearing loss Laboratory: - GJB2 gene mutation - GJB6 gene mutation

Related

GJB2 (connexin-26) gene mutation GJB6 gene mutation; connexin-30 gene mutation

General

sensorineural hearing loss familial deafness

References

  1. ARUP Consult: Hereditary Nonsyndromic Hearing Loss - Connexin 26 or 30 The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/hearing-loss-hereditary-nonsyndromic