دورية أكاديمية
أعرض في EDS

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).

التفاصيل البيبلوغرافية
العنوان: 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).
المؤلفون: Barashkov NA; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation. Electronic address: barashkov2004@mail.ru., Klarov LA; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Department of Radiology, Republican Hospital #1- National Medical Centre, Ministry of Public Health of the Sakha Republic, Yakutsk, Russian Federation; Institute of Medicine, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Teryutin FM; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Solovyev AV; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Pshennikova VG; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Konnikova EE; Institute of Medicine, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Romanov GP; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Tobokhov AV; Institute of Medicine, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation., Morozov IV; SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation; Novosibirsk State University, Novosibirsk, Russian Federation., Bondar AA; SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation., Posukh OL; Novosibirsk State University, Novosibirsk, Russian Federation; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation., Dzhemileva LU; Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, Russian Federation; Department of Immunology and Human Reproductive Health, Bashkir State Medical University, Ufa, Russian Federation., Tomsky MI; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation., Khusnutdinova EK; Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, Russian Federation; Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russian Federation., Fedorova SA; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.
المصدر: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2018 Jan; Vol. 104, pp. 94-97. Date of Electronic Publication: 2017 Nov 06.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8464 (Electronic) Linking ISSN: 01655876 NLM ISO Abbreviation: Int J Pediatr Otorhinolaryngol Subsets: MEDLINE
أسماء مطبوعة: Publication: Limerick : Elsevier Scientific Publishers
Original Publication: [Amsterdam] Elsevier/North-Holland.
مواضيع طبية MeSH: Ear, Inner/*abnormalities , Genetic Diseases, X-Linked/*genetics , Hearing Loss, Conductive/*genetics , Hearing Loss, Sensorineural/*genetics , POU Domain Factors/*genetics, Child ; Female ; Hearing Tests ; Humans ; Magnetic Resonance Imaging ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Siberia ; Tomography, X-Ray Computed
مستخلص: 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.
(Copyright © 2017 Elsevier B.V. All rights reserved.)
فهرسة مساهمة: Keywords: DFNX2; Eastern Siberia; Inner ear abnormality; POU3F4; Russia; X-linked recessive deafness; Yakuts
المشرفين على المادة: 0 (POU Domain Factors)
0 (POU3F4 protein, human)
SCR Disease Name: Progressive hearing loss stapes fixation
تواريخ الأحداث: Date Created: 20171231 Date Completed: 20180319 Latest Revision: 20181202
رمز التحديث: 20221213
DOI: 10.1016/j.ijporl.2017.11.001
PMID: 29287890
قاعدة البيانات: MEDLINE
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