An autosomal genomic screen for autism. Collaborative linkage study of 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 genomi...

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Bibliographic Details
Published in:American journal of medical genetics 1999-12, Vol.88 (6), p.609-615
Main Authors: Barrett, S, Beck, J C, Bernier, R, Bisson, E, Braun, T A, Casavant, T L, Childress, D, Folstein, S E, Garcia, M, Gardiner, M B, Gilman, S, Haines, J L, Hopkins, K, Landa, R, Meyer, N H, Mullane, J A, Nishimura, D Y, Palmer, P, Piven, J, Purdy, J, Santangelo, S L, Searby, C, Sheffield, V, Singleton, J, Slager, S
Format: Article
Language:English
Subjects:
Adolescent
Adult
Autistic Disorder - etiology
Autistic Disorder - genetics
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 13 - genetics
Chromosomes, Human, Pair 7 - genetics
Family Health
Female
Gene Frequency
Genes, Recessive - genetics
Genetic Linkage - genetics
Genetic Predisposition to Disease - genetics
Genetic Testing
Humans
Intelligence Tests
Male
Models, Genetic
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Summary: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.
ISSN:0148-7299