A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.
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.
Bönsch
D
D
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Klinikum der Universität Jena, Jena, Germany. dominikus.boensch@med.uni-jena.de
Scheer
P
P
Neumann
C
C
Lang-Roth
R
R
Seifert
E
E
Storch
P
P
Weiller
C
C
Lamprecht-Dinnesen
A
A
Deufel
T
T
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree