An autosomal genomic screen for autism

• Published in: American journal of medical genetics Vol. 88; no. 6; pp. 609 - 615
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 15-12-1999; Wiley-Liss
• Subjects: affected sib-pair; autism; Biological and medical sciences; Child clinical studies; Developmental disorders; Infantile autism; linkage; Medical genetics; Medical sciences; Mental and behavioral disorders; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Human; Linkage; Family study; Pathogenesis; Chromosome D13; Developmental disorder; Autosome; Chromosome C7; Genetic determinism; Autism; Gene; Psychopathology; Genome
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19991215)88:6<609::AID-AJMG7>3.0.CO;2-L

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. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:609–615, 1999. © 1999 Wiley‐Liss, Inc.