Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-12

AUTHORS

Colin T. Dolphin, Azara Janmohamed, Robert L. Smith, Elizabeth A. Shephard, R. Phillips

ABSTRACT

Individuals with primary trimethylaminuria exhibit a body odour reminiscent of rotting fish, due to excessive excretion of trimethylamine (TMA; refs 1-3). The disorder, colloquially known as fish-odour syndrome, is inherited recessively as a defect in hepatic N-oxidation of dietary-derived TMA and cannot be considered benign, as sufferers may display a variety of psychosocial reactions, ranging from social isolation of clinical depression and attempted suicide. TMA oxidation is catalyzed by flavin-containing mono-oxygenase (FMO; refs 7,8), and tissue localization and functional studies have established FMO3 as the form most likely to be defective in fish-odour syndrome. Direct sequencing of the coding exons of FMO3 amplified from a patient with fish-odour syndrome identified two missense mutations. Although one of these represented a common polymorphism, the other, a C-->T transition in exon 4, was found only in an affected pedigree, in which it segregated with the disorder. The latter mutation predicts a proline-->leucine substitution at residue 153 and abolishes FMO3 catalytic activity. Our results indicate that defects in FMO3 underlie fish-odour syndrome and that the Pro 153-->Leu 153 mutation described here is a cause of this distressing condition. More... »

PAGES

491-494

References to SciGraph publications

Journal

TITLE

Nature Genetics

ISSUE

4

VOLUME

17

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng1297-491

    DOI

    http://dx.doi.org/10.1038/ng1297-491

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1051216375

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/9398858


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