DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23

Abstract

Autosomal dominant inheritance accounts for about

20% of the cases of hereditary non-syndromic sensorineural hearing loss (NSSHL)—that is, hearing loss not

associated with other clinical features. So far, 36 loci

have been mapped in familial cases that segregate

autosomal dominant NSSHL (DFNA), and 17 genes

have been identified.

N Here we report the location of a novel autosomal

dominant deafness locus on 1q21–q23, DFNA49,

found by studying a large Spanish family with nonsyndromic, progressive mid-frequency hearing loss of

post-lingual onset. A maximum lod score of 6.02 at

h = 0 was obtained for markers D1S3784 and

D1S3785. Analysis of recombinant haplotypes placed

the deafness locus within a 4 cM region defined by

markers GDB:190880 and D1S3786.

N This genetic interval is proximal to and does not

overlap with the previously identified loci, DFNA7 and

DFNM1, on 1q21–q23.

N Screening of candidate genes within the DFNA49

interval (KCNJ9, KCNJ10, ATP1A2 and CASQ1) did

not reveal the mutation causing this deafness.