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Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

Journal article
Authors Marina Konyukh
Richard Delorme
Pauline Chaste
Claire Leblond
Nathalie Lemière
Gudrun Nygren
Henrik Anckarsäter
Maria Råstam
Ola Ståhlberg
Frederique Amsellem
I Carina Gillberg
Marie Christine Mouren-Simeoni
Evelyn Herbrecht
Fabien Fauchereau
Roberto Toro
Christopher Gillberg
Marion Leboyer
Thomas Bourgeron
Published in PLoS One
Volume 6
Issue 3
Pages e17289
ISSN 1932-6203
Publication year 2011
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages e17289
Language en
Keywords Case-Control Studies, Child, Child Development Disorders, Pervasive, Genetics, Chromosomes, Human, Pair 16, Genetics, Female, Genetic Association Studies, Genetic Variation, Genetics, Population, Genome, Human, Genetics, Humans, Male, Membrane Proteins, Genetics, Pedigree
Subject categories Child and adolescent psychiatry


Background Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2. The analysis of rare variations of 8 candidate genes among the 27 genes located in this region suggested SEZ6L2 as a compelling candidate. Methodology/Principal Findings We further explored the role of SEZ6L2 variations by screening its coding part in a group of 452 individuals, including 170 patients with ASD and 282 individuals from different ethnic backgrounds of the Human Genome Diversity Panel (HGDP), complementing the previously reported screening. We detected 7 previously unidentified non-synonymous variations of SEZ6L2 in ASD patients. We also identified 6 non-synonymous variations present only in HGDP. When we merged our results with the previously published, no enrichment of non-synonymous variation in SEZ6L2 was observed in the ASD group compared with controls. Conclusions/Significance Our results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to ASD.

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