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Article

Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Jun 2011

Schild Christian, Prera Erick, Lüblinghoff Nicola, Arndt Susan, Aschendorff Antje, Birkenhäger Ralf

Abstract excerpt

BACKGROUND: Hearing loss affects 1 to 3 in 1,000 newborns, with 50% of these cases because of genetic causes. The majority of these are nonsyndromic (70%), and 2% are X linked. So far, 6 different X-linked loci have been mapped, but the causative gene POU3F4 has been identified only for the Locus DFN3. Clinical features of DFN3 often include a mixed, progressive hearing loss, temporal bone anomalies, and stapes...

Topics

Child
DNA Mutational Analysis
Hearing Loss, Bilateral
Hearing Loss, Sensorineural
Humans
Male
Mutation
POU Domain Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 21555964
DOI: 10.1097/MAO.0b013e318210b749

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