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

Propionic acidemia and sensorineural hearing loss – a molecular genetic analysis

Meeting Abstract

  • corresponding author Sibylle Brosch - Abteilung Phoniatrie/Pädaudiologie der Univ.-HNO-Klinik, Würzburg, Deutschland
  • author Manuela Baur - Univ.-HNO-Klinik, Tübingen, Deutschland
  • author Markus Pfister - Univ.-HNO-Klinik, Tübingen, Deutschland
  • author Liliane Michels - Bereich Phoniatrie/Pädaudiologie der Univ.-HNO-Klinik, Tübingen, Deutschland
  • Andrea Raufeisen - Bereich Phoniatrie/Pädaudiologie der Univ.-HNO-Klinik, Tübingen, Deutschland
  • author Paul-Stefan Mauz - Univ.-HNO-Klinik, Tübingen, Deutschland

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. Düsseldorf, Köln: German Medical Science; 2006. Doc06hno006

Die elektronische Version dieses Artikels ist vollständig und ist verfügbar unter: http://www.egms.de/de/meetings/hno2006/06hno006.shtml

Veröffentlicht: 7. September 2006

© 2006 Brosch 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

Current Knowledge: The cumulative incidence of metabolic disease is around 1 in 100. One of these, propionic acidemia, is caused by a gene defect leading to a malfunction of the enzyme propionyl-CoA-carboxylase (PCC). This leads to a pathologic accumulation of propionic acid. Many mutations have been found at the molecular genetic level over the past 20 years and their consequences for the limitation of enzyme activity of PCC in propionic acidemia discussed.

Scientific Question and Aims of the Study: The increased incidence of deafness in patients with propionic acidemia suggests that mutations primarily responsible for this disease could also be the underlying cause for a genetic form of deafness.

Methods and Results: A standard pure tone audiogram and pedigree were set up. DNA extraction was obtained from either blood from the antecubital vein (30ml EDTA) or a buccal smear from 4 patients and 16 relatives. In one family a few relatives displayed two mutations. The mutation p.I450V (previously described in 1999) of the PCCA subunit showed no pathological influence on the enzyme activity of one female heterozygous patient.

Conclusions: The mutation of the PCCB subunit p.R113X has not yet been described in the literature and could be associated with deafness in the described patient.

Key Words: Propionic acidemia – sensorineural hearing loss – molecular genetics