Тип публикации: статья из журнала

Год издания: 2017

Идентификатор DOI: 10.1007/s12687-017-0299-3

Ключевые слова: Genetic testing, GJB2 gene, Hereditary hearing impairment, Opinions of the parents

Аннотация: Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the genetic aspects. The concerns expressed by individuals from groups with geneПоказать полностьюtic risks must be included in the counseling of patients and their families. For evaluation of subjective opinions of hearing parents about the presumed causes of HI of their children, we analyze the cohort of parents having children with confirmed hereditary HI caused by biallelic recessive GJB2 mutations (in a homozygous or a compound heterozygous state). This study included 70 deaf children with HI due to mutations in the GJB2 gene and 91 questionnaires about the presumed causes of their deafness filled by their parents. Most of the parents at 78% (CI 68.4–85.4%) attributed their children’s HI to “non-hereditary” causes and 22% (CI 14.7–31.6%) to “hereditary” causes (p 

Журнал: Journal of Community Genetics

Выпуск журнала: Vol. 8, Is. 3

Номера страниц: 167-171

ISSN журнала: 1868310X

Издатель: Springer Verlag

• Solovyev A.V. (Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation, Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Kulakovsky, Russian Federation)
• Dzhemileva L.U. (Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics of Ufa Scientific Centre, Ufa, Russian Federation, Department of Immunology and Human Reproductive Health, Bashkir State Medical University, Ufa, Russian Federation)
• Posukh O.L. (Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russian Federation, Novosibirsk State University, Novosibirsk, Russian Federation)
• Barashkov N.A. (Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation, Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Kulakovsky, Russian Federation)
• Bady-Khoo M.S. (Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russian Federation, Perinatal Center of the Tyva Republic, Kyzyl, Russian Federation)
• Lobov S.L. (Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics of Ufa Scientific Centre, Ufa, Russian Federation)
• Popova N.Y. (Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation)
• Romanov G.P. (Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation, Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Kulakovsky, Russian Federation)
• Sazonov N.N. (Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Kulakovsky, Russian Federation)
• Bondar A.A. (SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine of Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation)
• Morozov I.V. (SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine of Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation, Department of Molecular Biology, Novosibirsk State University, Novosibirsk, Russian Federation)
• Tomsky M.I. (Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation)
• Fedorova S.A. (Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation, Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Kulakovsky, Russian Federation)
• Khusnutdinova E.K. (Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics of Ufa Scientific Centre, Ufa, Russian Federation, Department of Genetics and Fundamental Medicine, Bashkir State University, Bashkortostan Republic, Ufa, Russian Federation)

• Scopus