A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus

被引：12

作者：

Bönsch, D

Scheer, P

Neumann, C

Lang-Roth, R

Seifert, E

Storch, P

Weiller, C

Lamprecht-Dinnesen, A

Deufel, T

机构：

[1] Klinikum Univ Jena, Inst Klin Chem, Jena, Germany

[2] Klinikum Univ Jena, Diagnost Lab, Jena, Germany

[3] Klinikum Univ Jena, Neurol Klin, Jena, Germany

[4] Univ Munster, Poliklin Phoniatr & Padaudiol, D-4400 Munster, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2001年 / 9卷 / 03期

关键词：

hereditary hearing impairment; linkage analysis; chromosome; 3q22; DFNA18; DM2; locus;

D O I：

10.1038/sj.ejhg.5200612

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Investigating a large German pedigree with non-syndromic hearing impairment of early onset and autosomal dominant mode of inheritance, linkage to known DFNA loci was excluded and in a subsequent genomic scan the phenotype was mapped to a 10-cM interval on chromosome 3q22; a maximum two-point lod score of 3.77 was obtained for the marker D3S1292. The new locus, DFNA18, is excluded from neighbouring deafness loci, DFNB15 and USH3, and it overlaps with the recently described DM2/PROMM locus. As hearing loss has been described as one feature of the PROMM phenotype, the DFNA18 gene might also be responsible for hearing loss in DM2/PROMM.

引用

页码：165 / 170

页数：6

共 36 条

[1] Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract [J].