title: 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: Molecular Neurogenetics Division, E. K. Shriver Center, Waltham, Massachusetts 02254.
authors: K B
authors: KB
authors: Sims
authors: A
authors: A
authors: de la Chapelle
authors: R
authors: R
authors: Norio
authors: E M
authors: EM
authors: Sankila
authors: Y P
authors: YP
authors: Hsu
authors: W B
authors: WB
authors: Rinehart
authors: T J
authors: TJ
authors: Corey
authors: L
authors: L
authors: Ozelius
authors: J F
authors: JF
authors: Powell
authors: G
authors: G
authors: Bruns
mesh_terms: D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000201:enzymology; D015152:Blotting, Northern; D015139:Blotting, Southern; D002478:Cells, Cultured; D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D008297:Male; D008995:Monoamine Oxidase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D012313:RNA / Q000235:genetics / Q000302:isolation & purification; D012016:Reference Values; D012729:Sex Chromosome Aberrations; D012867:Skin / Q000201:enzymology; D014960:X Chromosome
chemical_list: D007527:Isoenzymes; D012313:RNA; D004247:DNA; D008995:Monoamine Oxidase