Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4 | Zendy

Yvette J.M. de Kok | Zendy; Silvère M. van der Maarel | Zendy; Maria BitnerGlindzicz | Zendy; I Huber | Zendy; Anthony P. Monaco | Zendy; S Malcolm | Zendy; Marcus Pembrey | Zendy; HansHilger Ropers | Zendy; Frans P.M. Cremers | Zendy

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Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4

Author(s) -

Yvette J.M. de Kok,

Silvère M. van der Maarel,

Maria BitnerGlindzicz,

I Huber,

Anthony P. Monaco,

S Malcolm,

Marcus Pembrey,

HansHilger Ropers,

Frans P.M. Cremers

Publication year - 1995

Publication title -

science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 12.556

H-Index - 1186

eISSN - 1095-9203

pISSN - 0036-8075

DOI - 10.1126/science.7839145

Subject(s) - pou domain , gene , genetics , biology , inner ear , transcription factor , anatomy , homeobox

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.

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