Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Background: Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions, defect in communication abilities, and repetitive and stere...

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Bibliographic Details
Published in:Journal of medical genetics 2006-11, Vol.43 (11), p.843-849
Main Authors: Jacquemont, M-L, Sanlaville, D, Redon, R, Raoul, O, Cormier-Daire, V, Lyonnet, S, Amiel, J, Le Merrer, M, Heron, D, de Blois, M-C, Prieur, M, Vekemans, M, Carter, N P, Munnich, A, Colleaux, L, Philippe, A
Format: Article
Language:English
Subjects:
Adolescent
Adult
array-based CGH
array-CGH
Arrays
ASD
Autism
autism spectrum disorders
Biological and medical sciences
CGH
Child
Child clinical studies
Child Development Disorders, Pervasive
Child Development Disorders, Pervasive - diagnosis
Child Development Disorders, Pervasive - genetics
Chromosome Aberrations
Chromosomes
Chromosomes, Human
Cloning
comparative genomic hybridisation
Developmental disorders
Diagnostic Statistical Manual for Mental Disorders—fourth edition
DSM IV
Female
FISH
fluorescence in situ hybridisation
Fundamental and applied biological sciences. Psychology
Genetic Testing
Genetic Testing - methods
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Genomes
Genomics
Genomics - methods
Human genetics
Humans
Infantile autism
Life Sciences
Male
Medical genetics
Medical sciences
Molecular and cellular biology
Oligonucleotide Array Sequence Analysis
Oligonucleotide Array Sequence Analysis - methods
Original
Patients
PDD
PDD—NOS
PDD—not otherwise specified
pervasive developmental disorder
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Software
Syndrome
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Description
Summary:Background: Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions, defect in communication abilities, and repetitive and stereotyped interests and activities. ASD is prevalent in 1 to 3 per 1000 people. Despite several arguments for a strong genetic contribution, the molecular basis of a most cases remains unexplained. About 5% of patients with autism have a chromosome abnormality visible with cytogenetic methods. The most frequent are 15q11–q13 duplication, 2q37 and 22q13.3 deletions. Many other chromosomal imbalances have been described. However, most of them remain undetectable using routine karyotype analysis, thus impeding diagnosis and genetic counselling. Methods and results: 29 patients presenting with syndromic ASD were investigated using a DNA microarray constructed from large insert clones spaced at approximately 1 Mb intervals across the genome. Eight clinically relevant rearrangements were identified in 8 (27.5%) patients: six deletions and two duplications. Altered segments ranged in size from 1.4 to 16 Mb (2–19 clones). No recurrent abnormality was identified. Conclusion: These results clearly show that array comparative genomic hybridisation should be considered to be an essential aspect of the genetic analysis of patients with syndromic ASD. Moreover, besides their importance for diagnosis and genetic counselling, they may allow the delineation of new contiguous gene syndromes associated with ASD. Finally, the detailed molecular analysis of the rearranged regions may pave the way for the identification of new ASD genes.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2006.043166