An autosomal genomic screen for autism

Stacey Barrett, John C. Beck, Raphael Bernier, Erica Bisson, Terry A. Braun, Thomas L. Casavant, Deb Childress, Susan E. Folstein, Melissa Garcia, Mary Beth Gardiner, Stephen Gilman, Jonathan L. Haines, Kelly Hopkins, Rebecca Landa, Nicole H. Meyer, Julie Ann Mullane, Daryl Y. Nishimura, Pat Palmer, Joseph Piven, Joy PurdySusan L. Santangelo, Charles Searby, Val Sheffield, Jennifer Singleton, Susan Slager, Tom Struchen, Sarah Svenson, Veronica Vieland, Kai Wang, Brian Winklosky

Research output: Contribution to journalArticlepeer-review

302 Scopus citations


Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism is strongly genetic, and oligogenic transmission is likely. The first stage of a two- stage genomic screen for autism was carried out by the Collaborative Linkage Study of Autism on individuals affected with autism from 75 families ascertained through an affected sib-pair. The strongest multipoint results were for regions on chromosomes 13 and 7. The highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 (approximately 55 cM from the telomere) under the recessive model, with an estimated 35% of families linked to this locus. The next highest peak is an MMLS/het score of 2.3 at 19 cM, between D13S217 and D13S1229. Our third highest MMLS/het score of 2.2 is on chromosome 7 and is consistent with the International Molecular Genetic Study of Autism Consortium report of a possible susceptibility locus somewhere within 7q31-33. These regions and others will be followed up in the second stage of our study by typing additional markers in both the original and a second set of identically ascertained autism families, which are currently being collected. By comparing results across a number of studies, we expect to be able to narrow our search for autism susceptibility genes to a small number of genomic regions.

Original languageEnglish (US)
Pages (from-to)609-615
Number of pages7
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number6
StatePublished - Dec 15 1999


  • Affected sib-pair
  • Autism
  • Linkage

ASJC Scopus subject areas

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


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