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Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

Authors :
Bakkaloglu, Betul
O'Roak, Brian J.
Louvi, Angeliki
Gupta, Abha R.
Abelson, Jesse F.
Morgan, Thomas M.
Chawarska, Katarzyna
Klin, Ami
Ercan-Sencicek, A. Gulhan
Stillman, Althea A.
Tanriover, Gamze
Abrahams, Brett S.
Duvall, Jackie A.
Robbins, Elissa M.
Geshwind, Daniel H.
Biederer, Thomas
Gunel, Murat
Lifton, Richard P.
State, Matthew W.
Source :
American Journal of Human Genetics. Jan, 2008, Vol. 82 Issue 1, p165, 9 p.
Publication Year :
2008

Abstract

A de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and Contactin Associated Protein-Like 2 (CNTNAP2) in a child with congitive and social delay is identified. It is suggested that rare variants contribute to the pathophysiology of autism spectrum disorders (ASD).

Details

Language :
English
ISSN :
00029297
Volume :
82
Issue :
1
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.176764305