Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4
- 3 February 1995
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 267 (5198), 685-688
- https://doi.org/10.1126/science.7839145
Abstract
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.Keywords
This publication has 30 references indexed in Scilit:
- Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.Journal of Medical Genetics, 1994
- X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletionsHuman Molecular Genetics, 1994
- A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 geneHuman Molecular Genetics, 1994
- A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13qNature Genetics, 1994
- TRANSCRIPTION FACTORS: Structural Families and Principles of DNA RecognitionAnnual Review of Biochemistry, 1992
- Genetic Epidemiology of Hearing ImpairmentAnnals of the New York Academy of Sciences, 1991
- Cloning of a gene that is rearranged in patients with choroideraemiaNature, 1990
- Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromesGenomics, 1989
- X-linked mixed deafness with stapes fixation in a Mauritian kindred: Linkage to Xq probe pDP34Genomics, 1988
- Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA and expression of its gene in hepatic and erythroid tissuesGene, 1985