Autism and maternally derived aberrations of chromosome 15q

Richard J. Schroer, Mary C. Phelan, Ron C. Michaelis, Eric C. Crawford, Steven A. Skinner, Michael Cuccaro, Richard J. Simensen, Janet Bishop, Cindy Skinner, Don Fender, Roger E. Stevenson

Research output: Contribution to journalArticlepeer-review

310 Scopus citations


Of the chronic mental disabilities of childhood, autism is causally least well understood. The former view that autism was rooted in exposure to humorless and perfectionistic parenting has given way to the notion that genetic influences are dominant underlying factors. Still, identification of specific heritable factors has been slow with causes identified in only a few cases in unselected series. A broad search for genetic and environmental influences that cause or predispose to autism is the major thrust of the South Carolina Autism Project. Among the first 100 cases enrolled in the project, abnormalities of chromosome 15 have emerged as the single most common cause. The four abnormalities identified include deletions and duplications of proximal 15q. Other chromosome aberrations seen in single cases include a balanced 13;16 translocation, a pericentric inversion 12, a deletion of 20p, and a ring 7. Candidate genes involved in the 15q region affected by duplication and deletion include the ubiquitin-protein ligase (UBE3A) gene responsible for Angelman syndrome and genes for three GABA(A) receptor subunits. In all cases, the deletions or duplications occurred on the chromosome inherited from the mother.

Original languageEnglish (US)
Pages (from-to)327-336
Number of pages10
JournalAmerican journal of medical genetics
Issue number4
StatePublished - Apr 1 1998
Externally publishedYes


  • Autism
  • Chromosome 15q
  • Chromosome deletion
  • Chromosome duplication
  • Mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)


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