gms | German Medical Science

81. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e. V.

Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e. V.

12.05. - 16.05.2010, Wiesbaden

Frequency of occurrence of recessive 35delG mutation in GJB2 gene in children with sensorineural hearing loss

Meeting Abstract

  • corresponding author Anastasiya Levaya-Smaliak - Belarusian State Medical University, Minsk, Belarus
  • Elena Merculova - Belarusian State Medical University, Minsk, Belarus
  • Nina Danilenko - Research Institute for Cytology and Genetics of the National Academy of Sciences, Minsk, Belarus

Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie. 81. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie. Wiesbaden, 12.-16.05.2010. Düsseldorf: German Medical Science GMS Publishing House; 2010. Doc10hnod364

DOI: 10.3205/10hnod364, URN: urn:nbn:de:0183-10hnod3648

Veröffentlicht: 22. April 2010

© 2010 Levaya-Smaliak et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Introduction: A human being is known to have about 100 genes associated with deafness and hearing loss, which are located in both the nucleus and mitochondria. Most commonly detected mutations are those in the GJB2 gene, mononucleotic deletion 35 delG including, which accounts for up to 50% of cases of neurosensory hearing loss in Europeans.

We studied frequency of occurrence of the above-mentioned mutation among Belarusian schoolchildren with the impaired hearing.

Methods: 35delG mutation was detected with the help of blood’s polymerase chain reaction. The children’s parents were asked about the presence of risk factors and timely diagnosis of sensorineural hearing loss by means of questionnaires.

Results: 68 children aged 6–19 years old with severe to profound bilateral sensorineural hearing loss (according to the WHO classification) were examined. Autosomal recessive genotype was detected in 51.4%, heterozygous genotype in 2.9% of children.

The questionnaires showed that impaired hearing was first noted by the parents when the child was under 1 year old in 42.6%, from 1 to 3 years old in 38.2%, and above 3 years old in 19.1% of children.

Reasons for impaired hearing as reported by the parents were as follows: ototoxic antibiotics intake in 32.3%, heredity in 30.9%, unknown factors in 25%, other factors in 11.8% of children.

Conclusion:

1.
The conducted study demonstrates frequent occurrence of 35delG nuclear mutation (53.4%) in sensorineural hearing loss in children from Minsk-city.
2.
Possible risk factors for sensorineural hearing loss such as ototoxic antibiotics intake and heredity have been determined.
3.
Impaired hearing loss has been noted by parents in almost half of the children (42.6%) under 1 year old.