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Further evidence for linkage of low–mid frequency hearing impairment to the candidate region on chromosome 4p16.3
Author(s) -
Brodwolf S,
Böddeker IR,
Ziegler A,
Rausch P,
Kunz J
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.600211.x
Subject(s) - audiogram , genetics , genetic linkage , biology , chromosome , candidate gene , hearing loss , linkage (software) , gene , audiology , medicine
We have investigated a three‐generation family with an autosomal dominant low–mid frequency hearing loss. Audiograms show consistently a hearing threshold of 50±20 db hearing loss (HL) between 250 Hz and 1–2 kHz. Normal hearing level was reached between 3 and 6 kHz in all examined children. Adult patients show an additional hearing impairment (HI) in the mid and higher frequencies that seems to differ from presbyacusis. The HI is always bilateral and symmetrical. Genes causing non‐syndromic autosomal‐dominant deafness with HI in the low and mid frequencies were previously mapped to chromosome 4p16.3 (DFNA6, DFNA14) and chromosome 5q31 (DFNA1). After exclusion of linkage to DFNA1 on chromosome 5, we mapped the candidate gene region to the DFNA14 and DFNA6 loci, between the genetic markers D4S432 and D4S431, located on chromosome 4. This is a further family in which evident linkage of low–mid frequency HI to the candidate region on chromosome 4p16.3 has been found.