Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. The underlying gene has been localized to a 500-kilobase segment of the Xq21 band. Here, it is reported that a candidate gene for this disorder, Brain 4 (POU3F4), which encodes a transcription factor with a POU domain, maps to the same interval. In five unrelated patients with DFN3 but not in 50 normal controls, small mutations were found that result in truncation of the predicted protein or in nonconservative amino acid substitutions. These findings indicate that POU3F4 mutations are a molecular cause of DFN3.
de Kok
Y J
YJ
Department of Human Genetics, University Hospital Nijmegen, Netherlands.
van der Maarel
S M
SM
Bitner-Glindzicz
M
M
Huber
I
I
Monaco
A P
AP
Malcolm
S
S
Pembrey
M E
ME
Ropers
H H
HH
Cremers
F P
FP
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D050809:POU Domain Factors; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D014960:X Chromosome
D050809:POU Domain Factors; C091774:POU3F4 protein, human; D014157:Transcription Factors