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Neuron. 1989 Jan;2(1):1069-76.

Monoamine oxidase deficiency in males with an X chromosome deletion.

Author information

1
Molecular Neurogenetics Division, E. K. Shriver Center, Waltham, Massachusetts 02254.

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.

PMID:
2483108
DOI:
10.1016/0896-6273(89)90231-6
[Indexed for MEDLINE]

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