A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.
The first localization of a gene responsible for autosomal, neurosensory, recessive deafness recently assigned NSRD1 to the centromeric region of human chromosome 13. We now report on a dominant form of neurosensory deafness found in a family of French origin. The deafness is moderate to severe, has a prelingual onset and affects predominantly the high frequencies. The gene responsible for this form of deafness was found by linkage analysis to map to the same region of chromosome 13 as NSRD1. A multipoint analysis gave a maximum lod score of 4.66 with a most likely location close to locus D13S175. This suggests that different mutations in NSRD1 may cause both dominant and recessive neurosensory deafness.
Chaïb
H
H
Unité de Génétique Moléculaire Humaine, URA CNRS 1445, Institut Pasteur, Paris, France.
Lina-Granade
G
G
Guilford
P
P
Plauchu
H
H
Levilliers
J
J
Morgon
A
A
Petit
C
C
D002503:Centromere / Q000235:genetics; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D000072259:Connexin 26; D017630:Connexins; D003638:Deafness / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26