Journal of Inherited Metabolic Disease

, Volume 18, Issue 5, pp 577–583 | Cite as

The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene: high prevalence in the swiss population resident in Geneva

  • B. Conne
  • R. Zufferey
  • D. Belin


We have determined the frequency of the A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in a cohort of 1142 healthy babies born in two Geneva hospitals. Among babies with at least one Swiss parent, heterozygotes were detected at a frequency of 1/52, with a 95% confidence range from 1/82 to 1/38. The high frequency of the carrier state for this mutation suggests that MCAD-deficient babies are born with a frequency of 1/10 000 in the Swiss population. This number is in sharp contrast with the low number of symptomatic MCAD-deficient patients diagnosed in this country. Thus, the fraction of homozygotes who remain asymptomatic is likely to be very high in the Swiss population, and possibly higher than in other countries of northern Europe.


A985G Mutation Swiss Population Cystic Fibrosis Gene Guthrie Card MCAD Deficiency 
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  1. Annuaire statistique du canton de Genève (1993) Geneva: Office Cantonal de la Statistique Genève.Google Scholar
  2. Ausubel FM, Brent R, Kingston RE, et al (1994)Current Protocols in Molecular Biology. Boston: Massachussets General Hospital, Harvard Medical School.Google Scholar
  3. Council of Europe (1984)Population studies, no. 12: Immigrant populations and demographic development in the member states of the council of Europe. Strasbourg: Council of Europe.Google Scholar
  4. Ged C, Sebai HeL de Verneuil H, Parrot-Rouleau F (1995) Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?J Inher Metab Dis 18: 253–256.PubMedCrossRefGoogle Scholar
  5. Gregersen N, Winter V, Curtis D, et al (1993) Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K329E) is subject to a strong founder effect from northwestern Europe.Hum Hered 43: 342–350.PubMedGoogle Scholar
  6. Ikeda Y, Okamura-Ikeda K, Tanaka K (1985) Purification and characterization of short chain, medium chain, and long chain acyl-CoA dehydrogenase from rat liver mitochondria: isolation of the holo and apoenzyme and conversion of the apoenzyme to the holoenzyme.J Biol Chem 260: 1311–1325.PubMedGoogle Scholar
  7. Kølvraa S, Gregersen N, Blakemore AIF, et al (1991) The most common mutation causing MCAD deficiency is strongly associated with a particular haplotype in the region of the gene.Hum Genet 87: 425–428.PubMedCrossRefGoogle Scholar
  8. Lorenzen J, Jux G, Zhao-Höhn M, Klöckner A, Fischer R, Hansmann ML (1994) Detection of T-cell clonality in paraffin-embedded tissues.Diagn Mol Pathol 3: 93–99.PubMedGoogle Scholar
  9. Lundemose JB, Gregersen N, Kølvraa S, et al (1993) The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome.Acta Paediatr 82: 544–546.PubMedGoogle Scholar
  10. Malik NJ, Morris MA, Thonney F, Bühler EM (1993) A very frequent frameshift mutation of the cystic fibrosis gene in the Swiss population.Am J Hum Genet 53: A1198.Google Scholar
  11. Matsubara Y, Narisawa K, Miyabayashi S, et al (1990) Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.Biochem Biophys Res Commun 171: 498–505.PubMedCrossRefGoogle Scholar
  12. Miserez AR, Laager R, Chiodetti N, Keller U (1994) High prevalence of familial defective apolipoprotein B-100 in Switzerland.J Lipid Res 35: 574–583.PubMedGoogle Scholar
  13. Rodman DM, Zamudio S (1991) The cystic fibrosis heterozygote—advantage in surviving cholera?Med Hypotheses 36: 253–258.PubMedCrossRefGoogle Scholar
  14. Schuster H, Rauh G, Kormann B, et al (1990) Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich.Arteriosclerosis 10: 577–581.PubMedGoogle Scholar
  15. Seddon HR, Green A, Gray RGF, Leonard JV, Pollitt RJ (1995) Regional variations in medium-chain acyl-CoA dehydrogenase deficiency.Lancet 345: 135–136.PubMedCrossRefGoogle Scholar
  16. Touma EH, Charpentier C (1992) Medium chain acyl-CoA dehydrogenase deficiency.Arch Dis Child 67: 142–145.PubMedCrossRefGoogle Scholar
  17. Tybjaerg-Hansen A, Gallagher J, Houlsten R, et al (1990) Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia and clinical characteristics of ten cases.Atherosclerosis 80: 235–242.PubMedCrossRefGoogle Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • B. Conne
    • 1
  • R. Zufferey
    • 2
  • D. Belin
    • 1
  1. 1.Département de Pathologie and Centre Médical UniversitaireGeneva 4Switzerland
  2. 2.Microbiology Institute ETH Zentrum/LFV E20ZürichSwitzerland

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