title: Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).
abstract: Employing various probes from the proximal part of the Xq21 region, which is known to harbor the DFN3 gene, we have investigated 13 unrelated male probands with X-linked deafness, to detect possible deletions. For two of these patients, microdeletions could be detected by using probe pHU16 (DXS26). One of these deletions also encompasses locus DXS169, indicating that it extends farther toward the centromere. The presence of normal hybridization patterns in the DNA of 25 unrelated control males suggests that these deletions are the primary cause of progressive mixed deafness in these patients. If so, their molecular characterization may pave the way for the identification and isolation of the corresponding gene.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: I
authors.initials: I
authors.lastname: Bach
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: P
authors.initials: P
authors.lastname: Beighton
authors.forename: R H
authors.initials: RH
authors.lastname: Ruvalcaba
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: M E
authors.initials: ME
authors.lastname: Pembrey
authors.forename: S D
authors.initials: SD
authors.lastname: van der Velde-Visser
authors.forename: G A
authors.initials: GA
authors.lastname: Bruns
authors.forename: C W
authors.initials: CW
authors.lastname: Cremers
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003638:Deafness / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D014960:X Chromosome
chemical_list: D005819:Genetic Markers