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   <ref-type name="Journal Article">17</ref-type>
   <contributors>
    <authors>
     <author>Solovyev, A.V.</author>
     <author>Dzhemileva, L.U.</author>
     <author>Posukh, O.L.</author>
     <author>Barashkov, N.A.</author>
     <author>Bady-Khoo, M.S.</author>
     <author>Lobov, S.L.</author>
     <author>Popova, N.Y.</author>
     <author>Romanov, G.P.</author>
     <author>Sazonov, N.N.</author>
     <author>Bondar, A.A.</author>
     <author>Morozov, I.V.</author>
     <author>Tomsky, M.I.</author>
     <author>Fedorova, S.A.</author>
     <author>Khusnutdinova, E.K.</author>
    </authors>
   </contributors>
   <titles>
    <title></title>
   </titles>
   <dates>
    <year>2017</year>
    <pub-dates>
     <date>2018-02-07</date>
    </pub-dates>
   </dates>
   <doi>10.1007/s12687-017-0299-3</doi>
   <abstract>Abstract Hereditary hearing impairment (HI) caused by recessive&#13;
GJB2 mutations is a frequent sensory disorder. The&#13;
results of the molecular-based studies of HI are widely used&#13;
in various genetic test systems. However, the ethical aspects are&#13;
less described than the genetic aspects. The concerns expressed&#13;
by individuals from groups with genetic risks must be included&#13;
in the counseling of patients and their families. For evaluation&#13;
of subjective opinions of hearing parents about the presumed&#13;
causes of HI of their children, we analyze the cohort of parents&#13;
having children with confirmed hereditary HI caused by&#13;
biallelic recessive GJB2 mutations (in a homozygous or a compound&#13;
heterozygous state). This study included 70 deaf children&#13;
with HI due to mutations in the GJB2 gene and 91 questionnaires&#13;
about the presumed causes of their deafness filled by&#13;
their parents. Most of the parents at 78% (CI 68.4–85.4%)&#13;
attributed their children’s HI to Bnon-hereditary^ causes and&#13;
22% (CI 14.7–31.6%) to Bhereditary^ causes (p &lt; 0.05).&#13;
Therefore, the prior opinions of the parents did not correspond&#13;
to positive GJB2 genetic testing results. The subjective opinions&#13;
of parents are probably partly based on family history,&#13;
since respondents with deaf relatives in their pedigree more&#13;
likely supposed hereditary causes for HI in their children than&#13;
the respondents without deaf relatives (p &lt; 0.001).</abstract>
   <urls>
    <web-urls>
     <url>https://repo.bashgmu.ru/publication/1021</url>
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    <pdf-urls>
     <url>https://repo.bashgmu.ru/files/1163</url>
    </pdf-urls>
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