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Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

Journal article
Authors Christel Depienne
Daniel Moreno-De-Luca
Delphine Heron
Delphine Bouteiller
Aurélie Gennetier
Richard Delorme
Pauline Chaste
Jean-Pierre Siffroi
Sandra Chantot-Bastaraud
Baya Benyahia
Oriane Trouillard
Gudrun Nygren
Svenny Kopp
Maria E I Johansson
Maria Råstam
Lydie Burglen
Eric Leguern
Alain Verloes
Marion Leboyer
Alexis Brice
Christopher Gillberg
Catalina Betancur
Published in Biological Psychiatry
Volume 66
Issue 4
Pages 349-359
ISSN 0006-3223
Publication year 2009
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 349-359
Language en
Links dx.doi.org/10.1016/j.biopsych.2009....
Keywords Adolescent, Adult, Angelman Syndrome, Genetics, Autistic Disorder, Genetics, Child, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 15, Genetics, DNA Methylation, Genetics, Female, Gene Deletion, Gene Dosage, Humans, Male, Microsatellite Repeats, Genetics, Prader-Willi Syndrome, Genetics, Uniparental Disomy
Subject categories Child and adolescent psychiatry

Abstract

BACKGROUND: Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD. METHODS: A total of 522 patients belonging to 430 families were screened for deletions, duplications, and methylation abnormalities involving 15q11-q13 with multiplex ligation-dependent probe amplification (MLPA). RESULTS: We identified four patients with 15q11-q13 abnormalities: a supernumerary chromosome 15, a paternal interstitial duplication, and two subjects with Angelman syndrome, one with a maternal deletion and the other with a paternal uniparental disomy. CONCLUSIONS: Our results show that abnormalities of the 15q11-q13 region are a significant cause of ASD, accounting for approximately 1% of cases. Maternal interstitial 15q11-q13 duplications, previously reported to be present in 1% of patients with ASD, were not detected in our sample. Although paternal duplications of chromosome 15 remain phenotypically silent in the majority of patients, they can give rise to developmental delay and ASD in some subjects, suggesting that paternally expressed genes in this region can contribute to ASD, albeit with reduced penetrance compared with maternal duplications. These findings indicate that patients with ASD should be routinely screened for 15q genomic imbalances and methylation abnormalities and that MLPA is a reliable, rapid, and cost-effective method to perform this screening.

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