title: Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.
abstract: Autosomal recessive childhood-onset non-syndromic deafness is one of the most frequent forms of inherited hearing impairment. Recently five different chromosomal regions, 7q31, 11q13.5, 13q12, 14q and the pericentromeric region of chromosome 17, have been shown to harbour disease loci for this type of neurosensory deafness. We have studied a large family from Pakistan, containing several consanguineous marriages and segregating for a recessive non-syndromic childhood-onset deafness. Linkage analysis mapped the disease locus (DFNB8) on the distal long arm of chromosome 21, most likely between D21S212 and D21S1225 with the highest lod score of 7.31 at theta = 0.00 for D21S1575 on 21q22.3.
authors.affiliation: Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Veske
authors.forename: R
authors.initials: R
authors.lastname: Oehlmann
authors.forename: F
authors.initials: F
authors.lastname: Younus
authors.forename: A
authors.initials: A
authors.lastname: Mohyuddin
authors.forename: B
authors.initials: B
authors.lastname: Müller-Myhsok
authors.forename: S Q
authors.initials: SQ
authors.lastname: Mehdi
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008126:Lod Score; D008297:Male; D010154:Pakistan; D010375:Pedigree