Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3

被引：10
作者：
Brodwolf, S
Böddeker, IR
Ziegler, A
Rausch, P
Kunz, J
机构：
[1] Univ Marburg, Ctr Human Genet, D-35033 Marburg, Germany
[2] Univ Marburg, Inst Med Biometry & Epidemiol, Ctr Methodol & Hlth Res, D-35033 Marburg, Germany
[3] Univ Marburg, Clin Phoniatr & Pedaudiol, D-35033 Marburg, Germany
来源：
CLINICAL GENETICS | 2001年 / 60卷 / 02期
关键词：
chromosome; 4p16.3; DFNA14; DFNA6; sensorineural; low-mid frequency hearing loss;
D O I：
10.1034/j.1399-0004.2001.600211.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：155 / 160
页数：6
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