@article{282cc199a1a74b5493ad16c612a6c56b,
title = "Contribution of SHANK3 mutations to autism spectrum disorder",
abstract = "Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this gene in 400 ASD-affected subjects ascertained in Canada. One de novo mutation and two gene deletions were discovered, indicating a contribution of 0.75\% in this cohort. One additional SHANK3 deletion was characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven. The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing.",
author = "Rainald Moessner and Marshall, \{Christian R.\} and Sutcliffe, \{James S.\} and Jennifer Skaug and Dalila Pinto and John Vincent and Lonnie Zwaigenbaum and Bridget Fernandez and Wendy Roberts and Peter Szatmari and Scherer, \{Stephen W.\}",
note = "Funding Information: We thank Dr. Fei Yu Han, Memorial University of Newfoundland and Labrador, for performing the FISH analysis on family ASD2; Dr. Susan McGrew and Genea Crockett, for assessment of the VAN3524 (ASD3) family; and Dr. Jonathan Haines, Michelle Lee, and Maryam Mashreghi-Mohammadi of The Centre for Applied Genomics, for technical assistance. This work is supported by Genome Canada/Ontario Genomics Institute, the Canadian Institutes of Health Research (CIHR), the McLaughlin Centre for Molecular Medicine, the Canadian Institute of Advanced Research, the Hospital for Sick Children (SickKids) Foundation (all to S.W.S.), and National Institutes of Health grant MH061009 (to J.S.S.). C.R.M. is supported by the SickKids Foundation and the National Alliance for Research on Schizophrenia and Depression. D.P. is supported by Netherlands Organization for Scientific Research–Rubicon fellowship 2007/02470/ALW and Royal Netherlands Academy of Arts and Sciences–Ter Meulen Funds fellowship TMF/DA/5801. S.W.S. is an Investigator of CIHR and the GlaxoSmithKline/CIHR Pathfinder Chair in Genetics and Genomics at SickKids and the University of Toronto. ",
year = "2007",
doi = "10.1086/522590",
language = "English",
volume = "81",
pages = "1289--1297",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",
}