[A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter].
By investigation of a German family pedigree with non-syndromic hearing impairment of early onset and autosomal-dominant mode of inheritance, linkage to known DFNA loci was excluded, and the existence of a new locus (DFNA33) was revealed. In a subsequent genomic scan the phenotype was mapped to a 6 cM interval on chromosome 13q34-qter. A maximum two-point lod score of 2.96 was obtained for the marker D13S285 with a maximum lod score in the multipoint analysis of 3.28 at 124.56 cM.
Bönsch
D
D
Abteilung für Psychiatrie, Psychotherapie und Suchtmedizin, Kliniken Essen-Mitte, Essen.
Schmidt
C-M
CM
Scheer
P
P
Bohlender
J
J
Neumann
C
C
Am Zehnhoff-Dinnesen
A
A
Deufel
T
T
D000328:Adult; D000368:Aged; D025063:Chromosome Disorders / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D034381:Hearing Loss / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D040641:Quantitative Trait Loci / Q000235:genetics*