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 Johansson, Maria Rastam, Lydie Burglen, Eric Leguern, Alain Verloes, Marion Leboyer, Alexis Brice, Christopher Gillberg, Catalina Betancur
Publication date
2009/8/15
Journal
Biological psychiatry
Volume
66
Issue
4
Pages
349-359
Publisher
Elsevier
Description
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 …
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Scholar articles
C Depienne, D Moreno-De-Luca, D Heron, D Bouteiller… - Biological psychiatry, 2009