title: DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
abstract: Genetic analysis of an inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at theta=0). Two additional large families, PKDF517 and PKDF741, co-segregate recessive deafness with markers linked to the same interval. Haplotype analyses of these three families refined the interval to 3.84 Mb defined by D9S1818 (centromeric) and D9SH6 (telomeric). This interval overlaps with the previously reported DFNB33 locus whose chromosomal map position has been recently revised and assigned to a new position on chromosome 10p11.23-q21.1. The nonsyndromic deafness locus on chromosome 9q segregating in family PKDF280 was designated DFNB79. We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602.
authors: National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan.
authors: Shahid Yar
authors: SY
authors: Khan
authors: Saima
authors: S
authors: Riazuddin
authors: Mohsin
authors: M
authors: Shahzad
authors: Nazir
authors: N
authors: Ahmed
authors: Ahmad Usman
authors: AU
authors: Zafar
authors: Atteeq Ur
authors: AU
authors: Rehman
authors: Robert J
authors: RJ
authors: Morell
authors: Andrew J
authors: AJ
authors: Griffith
authors: Zubair M
authors: ZM
authors: Ahmed
authors: Sheikh
authors: S
authors: Riazuddin
authors: Thomas B
authors: TB
authors: Friedman
mesh_terms: D001299:Audiometry; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005190:Family; D005260:Female; D056426:Genetic Loci / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D020161:Physical Chromosome Mapping
chemical_list: D005819:Genetic Markers