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Molecular Autism
Published in: Molecular Autism 1/2014

Open Access 01-12-2014 | Research

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

Authors: Catarina T Correia, Inês C Conceição, Bárbara Oliveira, Joana Coelho, Inês Sousa, Ana F Sequeira, Joana Almeida, Cátia Café, Frederico Duque, Susana Mouga, Wendy Roberts, Kun Gao, Jennifer K Lowe, Bhooma Thiruvahindrapuram, Susan Walker, Christian R Marshall, Dalila Pinto, John I Nurnberger, Stephen W Scherer, Daniel H Geschwind, Guiomar Oliveira, Astrid M Vicente

Published in: Molecular Autism | Issue 1/2014

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Abstract

Background

Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.

Methods

From the AGP CNV genomic screen in 2,147 ASD individuals, we selected for characterization an ANXA1 gene duplication that was absent in 4,964 population-based controls. We further screened the duplication in a follow-up sample including 1,496 patients and 410 controls, and evaluated clinical correlations and family segregation. Sequencing of exonic/downstream ANXA1 regions was performed in 490 ASD patients for identification of additional variants.

Results

The ANXA1 duplication, overlapping the last four exons and 3’UTR region, had an overall prevalence of 11/3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls. Duplication carriers presented no distinctive clinical phenotype. Family analysis showed neuropsychiatric deficits and ASD traits in multiple relatives carrying the duplication, suggestive of a complex genetic inheritance. Sequencing of exonic regions and the 3’UTR identified 11 novel changes, but no obvious variants with clinical significance.

Conclusions

We provide multilevel evidence for a role of ANXA1 in ASD etiology. Given its important role as mediator of glucocorticoid function in a wide variety of brain processes, including neuroprotection, apoptosis, and control of the neuroendocrine system, the results add ANXA1 to the growing list of rare candidate genetic etiological factors for ASD.
Appendix
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Metadata
Title
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Authors
Catarina T Correia
Inês C Conceição
Bárbara Oliveira
Joana Coelho
Inês Sousa
Ana F Sequeira
Joana Almeida
Cátia Café
Frederico Duque
Susana Mouga
Wendy Roberts
Kun Gao
Jennifer K Lowe
Bhooma Thiruvahindrapuram
Susan Walker
Christian R Marshall
Dalila Pinto
John I Nurnberger
Stephen W Scherer
Daniel H Geschwind
Guiomar Oliveira
Astrid M Vicente
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Molecular Autism / Issue 1/2014
Electronic ISSN: 2040-2392
DOI
https://doi.org/10.1186/2040-2392-5-28

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