title: Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.
abstract: Previously we confirmed linkage of autosomal dominantly inherited low-frequency sensorineural hearing impairment (LFSNHI) in a German family to the genetic locus DFNA6/DFNA14 on chromosome 4p16.3 close to the markers D4S432 and D4S431. Analysis of data from the Human Genome Project, showed that WFS1 is located in this region. Mutations in WFS1 are known to be responsible for Wolfram syndrome (DIDMOAD, MIM #606201), which follows an autosomal recessive trait. Studies in low-frequency hearing loss families showed that mutations in WFS1 were responsible for the phenotype. In all affected family members analysed, we detected a missense mutation in WFS1 (K705N) and therefore confirm the finding that the majority of mutations responsible for LFSNHI are missense mutations which localise to the C-terminal domain of the protein.
authors.affiliation: Center for Human Genetics, Philipps-University Marburg, Bahnhofstr 7, Marburg D-35033, Germany. kunzj@mailer.uni-marburg.de
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kunz
authors.forename: Ben
authors.initials: B
authors.lastname: Marquez-Klaka
authors.forename: Steffen
authors.initials: S
authors.lastname: Uebe
authors.forename: Anja
authors.initials: A
authors.lastname: Volz-Peters
authors.forename: Roswitha
authors.initials: R
authors.lastname: Berger
authors.forename: Peter
authors.initials: P
authors.lastname: Rausch
mesh_terms: D005260:Female; D005858:Germany; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D011110:Polymorphism, Genetic; D014929:Wolfram Syndrome / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein