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)

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

来源：International Journal of Pediatric Otorhinolaryngology, 2018, 104: 94-97.

DOI：10.1016/j.ijpor1.2017.11.001

• Inner ear abnormality
• X-linked recessive deafness
• DFNX2
• POU3F4
• Yakuts
• Eastern Siberia
• Russia

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.

• 出版日期2018-1