Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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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.
N1 - Publisher Copyright: © 2017 Elsevier B.V.
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 -
ID: 9444255