HDIA1 | definition of HDIA1 by Medical dictionary
Notation for a gene for DFNA1.
DIAPH1 A gene on chromosome 5q31 that encodes a homolog of the Drosophila diaphanous gene, which may play a role in regulating actin polymerisation of the hair cells of the inner ear.
DIAPH1 mutation is linked to autosomal dominant, nonsyndromic sensorineural progressive low-frequency hearing loss.
References in periodicals archive
Autosomal Dominant Nonsyndromic Hearing Loss Loci Characteristics Locus/Location Gene Name Onset/Decade Type DFNA1/5q31 HDIA1
Postlingual/1st-2nd Progressive DFNA2/1p34 GJB3(Cx31) Postlingual/2nd-3rd Progressive DFNA3/13q12 GJB2(Cx26) Prelingual Stable DFNA4/19q13 GJB2(Cx30) Postlingual/2nd Progressive DFNA5/7p15 DFNA5 Postlingual/1st-2nd Progressive DFNA6/4p16.