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Monoamine oxidase deficiency in males with an X chromosome deletion.

Abstract
Mapping of the human MAOA gene to chromosomal region Xp21-p11 prompted our study of two affected males in a family previously reported to have Norrie disease resulting from a submicroscopic deletion in this chromosomal region. In this investigation we demonstrate in these cousins deletion of the MAOA gene, undetectable levels of MAO-A and MAO-B activities in their fibroblasts and platelets, respectively, loss of mRNA for MAO-A in fibroblasts, and substantial alterations in urinary catecholamine metabolites. The present study documents that a marked deficiency of MAO activity is compatible with life and that genes for MAO-A and MAO-B are near each other in this Xp chromosomal region. Some of the clinical features of these MAO deletion patients may help to identify X-linked MAO deficiency diseases in humans.
AuthorsK B Sims, A de la Chapelle, R Norio, E M Sankila, Y P Hsu, W B Rinehart, T J Corey, L Ozelius, J F Powell, G Bruns
JournalNeuron (Neuron) Vol. 2 Issue 1 Pg. 1069-76 (Jan 1989) ISSN: 0896-6273 [Print] UNITED STATES
PMID2483108 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Isoenzymes
  • RNA
  • DNA
  • Monoamine Oxidase
Topics
  • Adolescent
  • Adult
  • Blood Platelets (enzymology)
  • Blotting, Northern
  • Blotting, Southern
  • Cells, Cultured
  • Child
  • Chromosome Deletion
  • DNA (genetics, isolation & purification)
  • Female
  • Fibroblasts (enzymology)
  • Humans
  • Isoenzymes (deficiency, genetics, metabolism)
  • Male
  • Monoamine Oxidase (deficiency, genetics, metabolism)
  • Pedigree
  • RNA (genetics, isolation & purification)
  • Reference Values
  • Sex Chromosome Aberrations
  • Skin (enzymology)
  • X Chromosome

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