title: The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.
abstract: A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located at Xq13. Tight linkage was excluded for DXS9 (probe RC8) and DXS41 (probe 99.6) on Xp and for blood clotting factor 9 (FIX) on distal Xq. Deafness is one of the predominant clinical features in males with deletions of the Xq21 band. Our results suggest that this association may be due to involvement of the DFN3 gene.
authors.affiliation: Department of Human Genetics, Catholic University, Nijmegen, The Netherlands.
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: A
authors.initials: A
authors.lastname: van Bennekom
authors.forename: E M
authors.initials: EM
authors.lastname: Lambermon
authors.forename: T L
authors.initials: TL
authors.lastname: Oei
authors.forename: W R
authors.initials: WR
authors.lastname: Cremers
authors.forename: B
authors.initials: B
authors.lastname: Wieringa
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
mesh_terms: D015342:DNA Probes; D003638:Deafness / Q000235:genetics* / Q000601:surgery; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D010498:Perilymph; D010735:Phosphoglycerate Kinase / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D013201:Stapes Surgery; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D010735:Phosphoglycerate Kinase