Monoamine oxidase deficiency in males with an X chromosome deletion.
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.
Sims
K B
KB
Molecular Neurogenetics Division, E. K. Shriver Center, Waltham, Massachusetts 02254.
de la Chapelle
A
A
Norio
R
R
Sankila
E M
EM
Hsu
Y P
YP
Rinehart
W B
WB
Corey
T J
TJ
Ozelius
L
L
Powell
J F
JF
Bruns
G
G
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
D007527:Isoenzymes; D012313:RNA; D004247:DNA; D008995:Monoamine Oxidase