Article
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
Science (New York, N.Y.) - 3 Feb 1995
de Kok Y J, van der Maarel S M, Bitner-Glindzicz M, Huber I, Monaco A P, Malcolm S, Pembrey M E, Ropers H H, Cremers F P
Abstract excerpt
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 fa...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- DNA Mutational Analysis
- Deafness
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- POU Domain Factors
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Sequence Deletion
- Transcription Factors
- X Chromosome