title: DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.
abstract: This article describes the identification of a novel locus (DFNB39) responsible for an autosomal recessive form of hearing loss segregating in a Pakistani consanguineous family. The hearing impaired members of this family present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 7q with a maximum multipoint lod score of 3.8. The region of homozygosity spans a 19 cM region that is bounded by markers D7S3046 and D7S644.
mesh_terms: D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D010154:Pakistan; D010375:Pedigree
chemical_list: D005819:Genetic Markers