当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY期刊下所有文献 > 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).

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.

journal_name

Int J Pediatr Otorhinolaryngol

journal_title

International journal of pediatric otorhinolaryngology

authors

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

doi

10.1016/j.ijporl.2017.11.001

subject

Has Abstract

pub_date

2018-01-01 00:00:00

pages

94-97

eissn

0165-5876

issn

1872-8464

pii

S0165-5876(17)30544-X

journal_volume

104

pub_type

杂志文章

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