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.

• Authors: K 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
• Journal: Neuron (Neuron) Vol. 2 Issue 1 Pg. 1069-76 (Jan 1989) ISSN: 0896-6273 [Print] United States
• PMID: 2483108 (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