Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations.

Autor: Solovyev AV; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation. nelloann@mail.ru.; Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Kulakovsky, 46, 677000, Russian Federation. nelloann@mail.ru., Dzhemileva LU; 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 OL; Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russian Federation.; Novosibirsk State University, Novosibirsk, Russian Federation., Barashkov NA; 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, 46, 677000, Russian Federation., Bady-Khoo MS; Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russian Federation.; Perinatal Center of the Tyva Republic, Kyzyl, Russian Federation., Lobov SL; Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics of Ufa Scientific Centre, Ufa, Russian Federation., Popova NY; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation., Romanov GP; 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, 46, 677000, Russian Federation., Sazonov NN; Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Kulakovsky, 46, 677000, Russian Federation., Bondar AA; 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 IV; 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 MI; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation., Fedorova SA; 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, 46, 677000, Russian Federation., Khusnutdinova EK; 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.
Jazyk: angličtina
Zdroj: Journal of community genetics [J Community Genet] 2017 Jul; Vol. 8 (3), pp. 167-171. Date of Electronic Publication: 2017 Mar 21.
DOI: 10.1007/s12687-017-0299-3
Abstrakt: 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 genetic 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 < 0.05). Therefore, the prior opinions of the parents did not correspond to positive GJB2 genetic testing results. The subjective opinions of parents are probably partly based on family history, since respondents with deaf relatives in their pedigree more likely supposed hereditary causes for HI in their children than the respondents without deaf relatives (p < 0.001).
Databáze: MEDLINE
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