gms | German Medical Science

77. 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.

24.05. - 28.05.2006, Mannheim

Results of our non-syndromic hearing loss genetic screening program

Ergebnisse unseres nicht-syndromischen H÷rverlust screening Programms

Meeting Abstract

  • corresponding author Attila L. Nagy - University of Szeged, Department of Otorhinolaryngology, Head and Neck Surgery, Szeged, Hungary
  • author Rˇbert Csßki - Alfa-Biosoft Ltd., Szeged, Hungary
  • author Jˇzsef Klem - University of Szeged, Department of Biotechnology, Szeged, Hungary
  • author Miklˇs Csanßdy - University of Szeged, Department of Otorhinolaryngology, Head and Neck Surgery, Szeged, Hungary
  • author Ferenc Tˇth - University of Szeged, Department of Otorhinolaryngology, Head and Neck Surgery, Szeged, Hungary
  • author Attila Torkos - University of Szeged, Department of Otorhinolaryngology, Head and Neck Surgery, Szeged, Hungary
  • author KornÚl Kovßcs - University of Szeged, Department of Biotechnology, Szeged, Hungary
  • author Jˇzsef Jˇri - University of Szeged, Department of Otorhinolaryngology, Head and Neck Surgery, Szeged, Hungary
  • author presenting/speaker Jˇzsef GÚza Kiss - University of Szeged, Department of Otorhinolaryngology, Head and Neck Surgery, Szeged, Hungary

German Society of Otorhinolaryngology, Head and Neck Surgery. 77th Annual Meeting of the German Society of Otorhinolaryngology, Head and Neck Surgery. Mannheim, 24.-28.05.2006. DŘsseldorf, K÷ln: German Medical Science; 2006. Doc06hno009

Die elektronische Version dieses Artikels ist vollstńndig und ist verfŘgbar unter: http://www.egms.de/de/meetings/hno2006/06hno009.shtml

Veröffentlicht: 7. September 2006

© 2006 Nagy 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 vervielf&aauml;ltigt, verbreitet und &oauml;ffentlich zug&aauml;nglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Problem: Non-syndromic hearing loss is one of the most abundant human sensory disorders, and can be found in 1 out of 1000 newborns. In 60-70 percent of the cases this disorder is hereditary, and in 70-80 percent of the cases has autosomal recessive genotype. The phenotype varies from moderate hearing loss to almost complete deafness, and, sometimes its expression occurs only in late childhood, meaning that traditional methods to improve hearing, and more importantly speech understanding and reproduction, can be applied with less success.

If we could detect these genetic variations early enough, perinatally, for example, or in the first few weeks of life, then we can plan the audiological and logopedical procedures to maintain the children's normal audiological and speech development, if needed with a planned, and just in time implemented cochlear implantation. We plan to detect more point mutations at once as we progress with our experiments.

Methods: We collect blood from patients with probable hereditary hearing loss, or deafness. Control blood samples are being collected from subjects with intact auditory system. The blood is collected into anti-coagulant tubes. DNA is cleaned from the samples with Viogen Blood DNA kit. We planned primer pairs to carry out AS-PCR reactions on the samples. In the first turn we analysed our samples looking for 35delG mutation in the GJB2 (Cx26) gene, which is one of the most abundant mutations that cause non-syndromic hearing loss.

Results: We found numerous patients with 35delG mutations, both heterozygous (with no detected hearing – related phenotypical discrepancies), and homozigous (phenotipically with moderate – to severe hearing loss) forms.

Conclusions: The methods work, the alterations we studied so far, can be detected in our group of patients. The next steps will provide us information on the possibilities of genetic screening in this field. The ongoing project, if completed successfully, can provide a tool that allows us to detect more genetic point mutations at one time, which can be of help when no other signs of possible hearing defects are detectable, but the suspicion exists.