Phenotype and genotype in females with POU3F4 mutations

Clinical Genetics
S MarlinA Toutain

Abstract

X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients. Only one has an inner ear malformation. No genotype/phenotype correlation is identified.

References

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Citations

Jun 3, 2011·Journal of Human Genetics·Ali M WaryahSaima Riazuddin
May 5, 2016·Case Reports in Otolaryngology·Tirth R Patel, Aaron C Moberly
Aug 27, 2016·AJNR. American Journal of Neuroradiology·M-L HoH D Curtin
Jan 22, 2011·The Annals of Otology, Rhinology, and Laryngology·Konstantina M StankovicLeila A Mankarious
May 30, 2020·AJNR. American Journal of Neuroradiology·R HongY Pan
Mar 13, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Jin Woong ChoiByung Yoon Choi
Mar 9, 2013·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Woo Seok KangKwang-Sun Lee

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