title: An autosomal genomic screen for autism. Collaborative linkage study of autism.
abstract: 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.
authors.affiliation: The Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: S
authors.initials: S
authors.lastname: Barrett
authors.forename: J C
authors.initials: JC
authors.lastname: Beck
authors.forename: R
authors.initials: R
authors.lastname: Bernier
authors.forename: E
authors.initials: E
authors.lastname: Bisson
authors.forename: T A
authors.initials: TA
authors.lastname: Braun
authors.forename: T L
authors.initials: TL
authors.lastname: Casavant
authors.forename: D
authors.initials: D
authors.lastname: Childress
authors.forename: S E
authors.initials: SE
authors.lastname: Folstein
authors.forename: M
authors.initials: M
authors.lastname: Garcia
authors.forename: M B
authors.initials: MB
authors.lastname: Gardiner
authors.forename: S
authors.initials: S
authors.lastname: Gilman
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
authors.forename: K
authors.initials: K
authors.lastname: Hopkins
authors.forename: R
authors.initials: R
authors.lastname: Landa
authors.forename: N H
authors.initials: NH
authors.lastname: Meyer
authors.forename: J A
authors.initials: JA
authors.lastname: Mullane
authors.forename: D Y
authors.initials: DY
authors.lastname: Nishimura
authors.forename: P
authors.initials: P
authors.lastname: Palmer
authors.forename: J
authors.initials: J
authors.lastname: Piven
authors.forename: J
authors.initials: J
authors.lastname: Purdy
authors.forename: S L
authors.initials: SL
authors.lastname: Santangelo
authors.forename: C
authors.initials: C
authors.lastname: Searby
authors.forename: V
authors.initials: V
authors.lastname: Sheffield
authors.forename: J
authors.initials: J
authors.lastname: Singleton
authors.forename: S
authors.initials: S
authors.lastname: Slager
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000209:etiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D008957:Models, Genetic