A NOVEL PATHOGENIC VARIANT C.975G&gt;A (P.TRP325*) IN THE POU3F4 GENE IN YAKUT FAMILY (EASTERN SIBERIA, RUSSIA) WITH THE X-LINKED DEAFNESS-2 (DFNX2)

BARASHKOV, N.A.; KLAROV, L.A.; TERYUTIN, F.M.; SOLOVYEV, A.V.; PSHENNIKOVA, V.G.; ROMANOV, G.P.; TOMSKY, M.I.; FEDOROVA, S.A.; KONNIKOVA, E.E.; TOBOKHOV, A.V.; MOROZOV, I.V.; BONDAR, A.A.; POSUKH, O.L.; DZHEMILEVA, L.U.; KHUSNUTDINOVA, E.K.

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, N.A., KLAROV, L.A., TERYUTIN, F.M., SOLOVYEV, A.V., PSHENNIKOVA, V.G., ROMANOV, G.P., TOMSKY, M.I., FEDOROVA, S.A., KONNIKOVA, E.E., TOBOKHOV, A.V., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L., DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K.

Publication date: 2018

DOI: 10.1016/j.ijporl.2017.11.001

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, Scopus, Web of Science

Издатель: Elsevier Science Publishing Company, Inc.

Тип: Article

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)

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