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. 2017 Jul;8(3):167-171.
doi: 10.1007/s12687-017-0299-3. Epub 2017 Mar 21.

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

Aisen V Solovyev  1   2 , Lilya U Dzhemileva  3   4 , Olga L Posukh  5   6 , Nikolay A Barashkov  7   8 , Marita S Bady-Khoo  5   9 , Semen L Lobov  3 , Natalya Yu Popova  7 , Georgii P Romanov  7   8 , Nikolay N Sazonov  8 , Alexander A Bondar  10 , Igor V Morozov  10   11 , Mikhail I Tomsky  7 , Sardana A Fedorova  7   8 , Elza K Khusnutdinova  3   12
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Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations

Aisen V Solovyev et al. J Community Genet. 2017 Jul.

Abstract

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).

Keywords: GJB2 gene; Genetic testing; Hereditary hearing impairment; Opinions of the parents.

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Conflict of interest statement

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

This work and questionnaire were approved by the local bioethics committee at the Yakut Science Centre of Complex Medical Problems (Yakutsk, Protocol 16, on April 16, 2009), the Bioethics Committee at the Institute of Biochemistry and Genetics of the Ufa Scientific Centre of the Russian Academy of Sciences (Ufa, Protocol 23, on February 26, 2010), and the Bioethics Commission at the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences (Novosibirsk, Protocol 9, on April 24, 2012).

Informed consent

All testing procedures were conducted with a written informed consent signed by the parents of deaf children.

Figures

Fig. 1
Fig. 1
Example of questionnaire. Note: List of deafness causes is according to Marazita et al. (1993)
Fig. 2
Fig. 2
The opinions of hearing parents about the causes of HI in their children with positive GJB2 genetic testing results
See this image and copyright information in PMC

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References

    1. Bady-Khoo MS, Bondar AA, Morozov IV, Zytsar MV, Mikhalskaya VY, et al. Study of hereditary forms of hearing loss in the Republic of Tyva. II. Evaluation of the mutational spectrum of the GJB2 (Cx26) gene and its contribution to the etiology of hearing loss. Meditsinskaya Genetika. 2014;13:30–40.
    1. Baldwin EE, Boudreault P, Fox M, Sinsheimer JS, Palmer CG. Effect of pre-test genetic counseling for deaf adults on knowledge of genetic testing. J Genet Couns. 2012;21(2):256–272. doi: 10.1007/s10897-011-9398-1. - DOI - PMC - PubMed
    1. Barashkov NA, Pshennikova VG, Posukh OL, Teryutin FM, Solovyev AV, et al. Spectrum and frequency of the GJB2 gene pathogenic variants in a large cohort of patients with hearing impairment living in a subarctic region of Russia (the Sakha Republic) PLoS One. 2016;11(5) doi: 10.1371/journal.pone.0156300. - DOI - PMC - PubMed
    1. Boudreault P, Baldwin EE, Fox M, Dutton L, Tullis LE, et al. Deaf adults’ reasons for genetic testing depend on cultural affiliation: results from a prospective, longitudinal genetic counseling and testing study. J Deaf Stud Deaf Educ. 2010;15(3):209–227. doi: 10.1093/deafed/enq012. - DOI - PMC - PubMed
    1. Brunger JW, Murray GS, O’Riordan M, Matthews AL, Smith RJH, Robin NH. Parental attitudes toward genetic testing for pediatric deafness. Am J Hum Genet. 2000;67(6):1621–1625. doi: 10.1086/316901. - DOI - PMC - PubMed

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