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

Authors
Bonsch, D Scheer, P Neumann, C Lang-Roth, R Seifert, E Storch, P Weiller, C Lamprecht-Dinnesen, A Deufel, T
Citation
D. Bonsch et al., A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus, EUR J HUM G, 9(3), 2001, pp. 165-170
Citations number
33
Categorie Soggetti
Molecular Biology & Genetics
Journal title
EUROPEAN JOURNAL OF HUMAN GENETICS
ISSN journal
10184813 → ACNP
Volume
9
Issue
3
Year of publication
2001
Pages
165 - 170
Database
ISI
SICI code
1018-4813(200103)9:3<165:ANLFAD>2.0.ZU;2-Y
Abstract
Investigating a large German pedigree with non-syndromic hearing impairment of early onset and autosomal dominant mode of inheritance, linkage to know n 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 sco re of 3.77 was obtained for the marker D3S1292. The new locus, DFNA18, is e xcluded from neighbouring deafness loci, DFNB15 and USH3, and it overlaps w ith the recently described DM2/PROMM locus. As hearing loss has been descri bed as one feature of the PROMM phenotype, the DFNA18 gene might also be re sponsible for hearing loss in DM2/PROMM.