Standard

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, 01.2018, стр. 94-97.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

Harvard

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.ijpor1.2017.11.001

APA

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.ijpor1.2017.11.001

Vancouver

Barashkov NA, Klarov LA, Teryutin FM, Solovyev AV, Pshennikova VG, Konnikova EE и др. 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. 2018 янв.;104:94-97. doi: 10.1016/j.ijpor1.2017.11.001

Author

Barashkov, Nikolay A. ; Klarov, Leonid A. ; Teryutin, Fedor M. и др. / 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). в: International Journal of Pediatric Otorhinolaryngology. 2018 ; Том 104. стр. 94-97.

BibTeX

@article{c5f6c2c22a3245e1a649b11d3f3e603d,
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 = "Inner ear abnormality, X-linked recessive deafness, DFNX2, POU3F4, Yakuts, Eastern Siberia, Russia, SENSORINEURAL HEARING-LOSS, MIXED DEAFNESS, PERILYMPHATIC GUSHER, CHINESE FAMILY, INNER-EAR, MUTATIONS, IDENTIFICATION, POPULATION, PHENOTYPE, DELETION, DOMAIN, LOCUS, REGION",
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.}",
year = "2018",
month = jan,
doi = "10.1016/j.ijpor1.2017.11.001",
language = "English",
volume = "104",
pages = "94--97",
journal = "International Journal of Pediatric Otorhinolaryngology",
issn = "0165-5876",
publisher = "Elsevier Ireland Ltd",

}

RIS

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

Y1 - 2018/1

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 - Inner ear abnormality

KW - X-linked recessive deafness

KW - DFNX2

KW - POU3F4

KW - Yakuts

KW - Eastern Siberia

KW - Russia

KW - SENSORINEURAL HEARING-LOSS

KW - MIXED DEAFNESS

KW - PERILYMPHATIC GUSHER

KW - CHINESE FAMILY

KW - INNER-EAR

KW - MUTATIONS

KW - IDENTIFICATION

KW - POPULATION

KW - PHENOTYPE

KW - DELETION

KW - DOMAIN

KW - LOCUS

KW - REGION

U2 - 10.1016/j.ijpor1.2017.11.001

DO - 10.1016/j.ijpor1.2017.11.001

M3 - Article

VL - 104

SP - 94

EP - 97

JO - International Journal of Pediatric Otorhinolaryngology

JF - International Journal of Pediatric Otorhinolaryngology

SN - 0165-5876

ER -

ID: 18649018