Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.
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.
Kunz
Jürgen
J
Center for Human Genetics, Philipps-University Marburg, Bahnhofstr 7, Marburg D-35033, Germany. kunzj@mailer.uni-marburg.de
Marquez-Klaka
Ben
B
Uebe
Steffen
S
Volz-Peters
Anja
A
Berger
Roswitha
R
Rausch
Peter
P
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
D008565:Membrane Proteins; C114987:wolframin protein