Screen for MAOA mutations in target human groups

Deborah E. Schuback, Evan L. Mulligan, Katherine B. Sims, Elizabeth A. Tivol, Benjamin D. Greenberg, Shu Fen Chang, Show Lin Yang, Yi Chien Mau, Chen Yang Shen, Mei Shang Ho, Nan Hua Yang, Merlin G. Butler, Stephen Fink, Charles E. Schwartz, F. Berlin, Xandra O. Breakefield, Dennis L. Murphy, Yun Pung Paul Hsu

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


Brunner et al. [1993: Am J Hum Genet 52: 1032-1039; 1993: Science 262:578-580] described males with an MAO-A deficiency state resulting from a premature stop codon in the coding region of the MAOA gene. This deficiency state was associated with abnormal levels of amines and amine metabolites in urine and plasma of affected males, as well as low normal intelligence and apparent difficulty in impulse control, including inappropriate sexual behavior. In the present study, disruption of the MAOA gene was evaluated in males with mental retardation with and without a history of sexually deviant behavior, as well as normal controls, healthy males, and patients with other diseases (Parkinson disease, Lesch-Nyhan syndrome). When available, plasma samples were evaluated first for levels of 3-methoxy, 4-hydroxyphenolglycol (MHPG), a metabolite of norepinephrine which serves as the most sensitive index of MAO-A activity in humans. Blood DNA from individuals with abnormally low MHPG, and from other individuals for whom metabolite levels were not available, were screened for nucleotide variations in the coding region of the MAOA gene by single-strand conformational polymorphism (SSCP) analysis across all 15 exons and splice junctions, and by sequencing, when indicated by either altered metabolites or SSCP shifts. No evidence for mutations disrupting the MAOA gene was found in 398 samples from the target populations, including institutionalized mentally retarded males (N = 352) and males participating in a sexual disorders clinic (N = 46), as well as control groups (N = 75). These studies indicate that MAOA deficiency states are not common in humans.

Original languageEnglish (US)
Pages (from-to)25-28
Number of pages4
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number1
StatePublished - Feb 5 1999


  • Biogenic amines
  • Genetics
  • Mental retardation
  • Monoamine oxidase
  • X-linked disorders

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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