Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene

Petrina N.E.; Marakhonov A.V.; Zinchenko R.A.

doi:https://doi.org/10.17116/otorino20208504165

Petrina N.E.

Research Center for Medical Genetics

Marakhonov A.V.

Research Center for Medical Genetics

Zinchenko R.A.

Research Center for Medical Genetics;
N.A. Semashko National Research Institute of Public Health

Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene

Authors:

Petrina N.E., Marakhonov A.V., Zinchenko R.A.

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Journal: Russian Bulletin of Otorhinolaryngology. 2020;85(4): 65‑69

DOI: 10.17116/otorino20208504165

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Petrina NE, Marakhonov AV, Zinchenko RA. Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene. Russian Bulletin of Otorhinolaryngology. 2020;85(4):65‑69. (In Russ.)
https://doi.org/10.17116/otorino20208504165

Подписка 2026 Вестник оториноларингологии (Russian Bulletin of Otorhinolaryngology)

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Abstract:

Congenital hearing loss is one of the most frequent inherited human pathologies, occurring in 1-2 out of 1000 newborns. X-linked hearing loss occurs in 1-5% of all congenital hearing impairments. The proband (a man) and his affected brother have profound prelingual non-syndromic neurosensory hearing loss. Their parents are healthy. The aim of the study was to determine the cause of hearing loss in a given family and to assess the population frequency of the revealed pathogenic genetic variant. NGS analysis identified a pathogenic variant c.907C>T (p.Pro303Ser) in the POU3F4 gene mapped to the Xq21.1 locus. This is the second case of X-linked hearing loss (DFNX2, OMIM 304400) in Europe, caused by the c.907C>T variant in the POU3F4 gene. DFNX2-hearing loss is manifested with abnormalities of the inner ear, predisposing to the “gusher effect” — otoliquorrhea during stapedoplasty. The brother was diagnosed with a c.907C>T variant in the POU3F4 gene in the hemizygous state while in their mother — in the heterozygous state. Their father had no variant c.907C>T. Molecular genetic analysis showed that the genetic variant c.907C>T was not detected in the control sample of healthy female from the Nogai population, which suggests its low frequency in the population.

Keywords:

X-linked hearing loss

gene POU3F4

variant c.907C>

T (p.Pro303Ser)

Authors:

Petrina N.E.

Research Center for Medical Genetics

Marakhonov A.V.

Research Center for Medical Genetics

Zinchenko R.A.

Research Center for Medical Genetics;
N.A. Semashko National Research Institute of Public Health

Received:

11.06.2019

Accepted:

25.04.2020

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References:

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