An autosomal genomic screen for autism.
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.
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005190:Family; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D007361:Intelligence Tests; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008957:Models, Genetic