Journal article
An autosomal genomic screen for autism
American journal of medical genetics, Vol.88(6), pp.609-615
12/15/1999
DOI: 10.1002/(SICI)1096-8628(19991215)88:6<609::AID-AJMG7>3.0.CO;2-L
PMID: 10581478
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. © 1999 Wiley‐Liss, Inc.
Details
- Title: Subtitle
- An autosomal genomic screen for autism
- Creators
- Stacey Barrett - Johns Hopkins Univ. Sch. of MedicineJohn C Beck - Univ. of Iowa College of MedicineRaphael Bernier - New England Med. Ctr./Tufts Univ. SErica Bisson - New England Med. Ctr./Tufts Univ. STerry A Braun - Univ. of Iowa College of MedicineThomas L Casavant - Univ. of Iowa College of MedicineDeb Childress - Univ. of Iowa College of MedicineSusan E Folstein - New England Med. Ctr./Tufts Univ. S., Department of Psychiatry, New England Medical CenterMelissa Garcia - Vanderbilt Univ. School of MedicineMary Beth Gardiner - Vanderbilt Univ. School of MedicineStephen Gilman - New England Med. Ctr./Tufts Univ. SJonathan L Haines - Vanderbilt Univ. School of MedicineKelly Hopkins - Vanderbilt Univ. School of MedicineRebecca Landa - Johns Hopkins Univ. Sch. of MedicineNicole H Meyer - Univ. of Iowa College of MedicineJulie Ann Mullane - New England Med. Ctr./Tufts Univ. SDaryl Y Nishimura - Univ. of Iowa College of MedicinePat Palmer - Univ. of Iowa College of MedicineJoseph Piven - Univ. of Iowa College of Medicine, CB#7250, 7th Floor Neurosciences Hospital, Univ. of NC Sch. of MedJoy Purdy - Vanderbilt Univ. School of MedicineSusan L Santangelo - New England Med. Ctr./Tufts Univ. S., Harvard Univ. Sch. of Public HealthCharles Searby - Univ. of Iowa College of MedicineVal Sheffield - Univ. of Iowa College of MedicineJennifer Singleton - Univ. of Iowa College of MedicineSusan Slager - Univ. of Iowa College of MedicineTom Struchen - Univ. of Iowa College of MedicineSarah Svenson - New England Med. Ctr./Tufts Univ. SVeronica Vieland - Univ. of Iowa College of MedicineKai Wang - Univ. of Iowa College of MedicineBrian Winklosky - New England Med. Ctr./Tufts Univ. SCollaborative Linkage Study of Autism
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.88(6), pp.609-615
- Publisher
- Wiley Subscription Services, Inc., A Wiley Company; New York
- DOI
- 10.1002/(SICI)1096-8628(19991215)88:6<609::AID-AJMG7>3.0.CO;2-L
- PMID
- 10581478
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Number of pages
- 7
- Grant note
- NIH (R10 MH55135; K21 MH01338; K02 MH01568; K02 MH01432; R01 MH52841)
- Language
- English
- Date published
- 12/15/1999
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biostatistics; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984064257702771
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