Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.

Détails

ID Serval
serval:BIB_1FCBB7871C2F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.
Périodique
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Auteur(s)
Bremer A., Giacobini M., Nordenskjöld M., Brøndum-Nielsen K., Mansouri M., Dahl N., Anderlid B., Schoumans J.
ISSN
1552-485X (Electronic)
ISSN-L
1552-4841
Statut éditorial
Publié
Date de publication
2010
Volume
153B
Numéro
1
Pages
280-285
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish. PDF type: BRIEF RESEARCH COMMUNICATION
Résumé
The autism spectrum disorder (ASD) is a heterogenous condition characterized by impaired socialization and communication in association with stereotypic behaviors. ASD is highly heritable and heterogeneous with a complex genetic etiology. Recurrent submicroscopic deletions or duplications have been identified in a subgroup of individuals with ASD using array technology. Adequate genetic testing for these genomic imbalances have not yet been widely implemented in the diagnostic setting due to lack of feasible and cost-effective methods as well as difficulties to interpret the clinical significance of these small copy number variants (CNVs). We developed a multiplex ligation-dependent probe amplification (MLPA) assay to investigate its usefulness for detection of copy number alterations (CNAs) in autistic patients. This test proved to be easy to perform, fast, cost-effective, and suitable for reliable detection of multiple loci in a single reaction. We screened 148 autistic patients for 15 different loci covering 26 genes and found a 15q11-13 interstitial duplication that had escaped detection by conventional karyotyping in 1.3% of the patients. Synthetic probe MLPA allows for a flexible analysis of a continuously increasing number of CNAs associated with autism. Our result show that MLPA assay is an easy and cost-effective method for the identification of selected CNAs in diagnostic laboratories.
Mots-clé
Child, Child Development Disorders, Pervasive/genetics, Chromosomes, Human, Pair 15, DNA Probes, Gene Dosage, Humans, Polymerase Chain Reaction/methods, Spectral Karyotyping
Pubmed
Web of science
Création de la notice
17/09/2011 8:45
Dernière modification de la notice
20/08/2019 12:55
Données d'usage