A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

Nikolay A. Barashkov; Leonid A. Klarov; Fedor M. Teryutin; Aisen V. Solovyev; Vera G. Pshennikova; Edilia E. Konnikova; Georgii P. Romanov; Alexander V. Tobokhov; Igor V. Morozov; Alexander A. Bondar; Olga L. Posukh; Lilya U. Dzhemileva; Mikhail I. Tomsky; Elza K. Khusnutdinova; Sardana A. Fedorova

doi:10.1016/j.ijporl.2017.11.001

A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

Nikolay A. Barashkov, Leonid A. Klarov, Fedor M. Teryutin, Aisen V. Solovyev, Vera G. Pshennikova, Edilia E. Konnikova, Georgii P. Romanov, Alexander V. Tobokhov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Lilya U. Dzhemileva, Mikhail I. Tomsky, Elza K. Khusnutdinova, Sardana A. Fedorova

Результат исследования: Научные публикации в периодических изданиях › статья › рецензирование

3 Цитирования (Scopus)

Аннотация

Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities (“corkscrew” cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant.

Язык оригинала	английский
Страницы (с-по)	94-97
Число страниц	4
Журнал	International Journal of Pediatric Otorhinolaryngology
Том	104
DOI	https://doi.org/10.1016/j.ijporl.2017.11.001
Состояние	Опубликовано - 1 янв. 2018

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10.1016/j.ijporl.2017.11.001

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Barashkov, N. A., Klarov, L. A., Teryutin, F. M., Solovyev, A. V., Pshennikova, V. G., Konnikova, E. E., Romanov, G. P., Tobokhov, A. V., Morozov, I. V., Bondar, A. A., Posukh, O. L., Dzhemileva, L. U., Tomsky, M. I., Khusnutdinova, E. K., & Fedorova, S. A. (2018). A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2). International Journal of Pediatric Otorhinolaryngology, 104, 94-97. https://doi.org/10.1016/j.ijporl.2017.11.001

@article{db1ff61e722f4ac7afabe42a62b9a34a,

title = "A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)",

abstract = "Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities (“corkscrew” cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant.",

keywords = "DFNX2, Eastern Siberia, Inner ear abnormality, POU3F4, Russia, X-linked recessive deafness, Yakuts, Ear, Inner/abnormalities, Humans, Male, Tomography, X-Ray Computed, Hearing Loss, Sensorineural/genetics, Magnetic Resonance Imaging, Hearing Loss, Conductive/genetics, Polymorphism, Restriction Fragment Length, Polymerase Chain Reaction, Siberia, Female, Child, Genetic Diseases, X-Linked/genetics, Hearing Tests, POU Domain Factors/genetics",

author = "Barashkov, {Nikolay A.} and Klarov, {Leonid A.} and Teryutin, {Fedor M.} and Solovyev, {Aisen V.} and Pshennikova, {Vera G.} and Konnikova, {Edilia E.} and Romanov, {Georgii P.} and Tobokhov, {Alexander V.} and Morozov, {Igor V.} and Bondar, {Alexander A.} and Posukh, {Olga L.} and Dzhemileva, {Lilya U.} and Tomsky, {Mikhail I.} and Khusnutdinova, {Elza K.} and Fedorova, {Sardana A.}",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier B.V.",

year = "2018",

month = jan,

day = "1",

doi = "10.1016/j.ijporl.2017.11.001",

language = "English",

volume = "104",

pages = "94--97",

journal = "International Journal of Pediatric Otorhinolaryngology",

issn = "0165-5876",

publisher = "Elsevier Ireland Ltd",

}

Barashkov, NA, Klarov, LA, Teryutin, FM, Solovyev, AV, Pshennikova, VG, Konnikova, EE, Romanov, GP, Tobokhov, AV, Morozov, IV, Bondar, AA, Posukh, OL, Dzhemileva, LU, Tomsky, MI, Khusnutdinova, EK & Fedorova, SA 2018, 'A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)', International Journal of Pediatric Otorhinolaryngology, том. 104, стр. 94-97. https://doi.org/10.1016/j.ijporl.2017.11.001

A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2). / Barashkov, Nikolay A.; Klarov, Leonid A.; Teryutin, Fedor M. и др.

В: International Journal of Pediatric Otorhinolaryngology, Том 104, 01.01.2018, стр. 94-97.

Результат исследования: Научные публикации в периодических изданиях › статья › рецензирование

TY - JOUR

T1 - A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

AU - Barashkov, Nikolay A.

AU - Klarov, Leonid A.

AU - Teryutin, Fedor M.

AU - Solovyev, Aisen V.

AU - Pshennikova, Vera G.

AU - Konnikova, Edilia E.

AU - Romanov, Georgii P.

AU - Tobokhov, Alexander V.

AU - Morozov, Igor V.

AU - Bondar, Alexander A.

AU - Posukh, Olga L.

AU - Dzhemileva, Lilya U.

AU - Tomsky, Mikhail I.

AU - Khusnutdinova, Elza K.

AU - Fedorova, Sardana A.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities (“corkscrew” cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant.

AB - Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities (“corkscrew” cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant.

KW - DFNX2

KW - Eastern Siberia

KW - Inner ear abnormality

KW - POU3F4

KW - Russia

KW - X-linked recessive deafness

KW - Yakuts

KW - Ear, Inner/abnormalities

KW - Humans

KW - Male

KW - Tomography, X-Ray Computed

KW - Hearing Loss, Sensorineural/genetics

KW - Magnetic Resonance Imaging

KW - Hearing Loss, Conductive/genetics

KW - Polymorphism, Restriction Fragment Length

KW - Polymerase Chain Reaction

KW - Siberia

KW - Female

KW - Child

KW - Genetic Diseases, X-Linked/genetics

KW - Hearing Tests

KW - POU Domain Factors/genetics

UR - http://www.scopus.com/inward/record.url?scp=85033380403&partnerID=8YFLogxK

U2 - 10.1016/j.ijporl.2017.11.001

DO - 10.1016/j.ijporl.2017.11.001

M3 - Article

C2 - 29287890

AN - SCOPUS:85033380403

VL - 104

SP - 94

EP - 97

JO - International Journal of Pediatric Otorhinolaryngology

JF - International Journal of Pediatric Otorhinolaryngology

SN - 0165-5876

ER -