DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter.
Autosomal recessive non-syndromal deafness is an extremely heterogeneous condition with at least 19 loci (DFNB1-19) already described. We have used autozygosity mapping to localise a further novel locus, DFNB20, to chromosome 11q25-qter in a consanguineous family originating from Pakistan. A region of homozygosity was observed in affected individuals spanning the interval D11S969-qter.
Moynihan
L
L
Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.
Houseman
M
M
Newton
V
V
Mueller
R
R
Lench
N
N
D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D000072259:Connexin 26; D017630:Connexins; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26