International Meeting for Autism Research (London, May 15-17, 2008): A submicroscopic 5q11.2 deletion in a child with autism, mild mental retardation and mild facial dysmorphism
Start | Browse by Day or Format | Author Index

A submicroscopic 5q11.2 deletion in a child with autism, mild mental retardation and mild facial dysmorphism

Friday, May 16, 2008
Champagne Terrace/Bordeaux (Novotel London West)
11:30 AM
H. Peeters , Human Genetics, Center for Human Genetics, University of Leuven, Leuven, Belgium
A. C. Crepel , Human Genetics, Center for Human Genetics, University of Leuven, Leuven, Belgium
K. Devriendt , Center for Human Genetics, University of Leuven, Leuven, Belgium
P. De Cock , Child Neurology, Center for Developmental Disorders
J. R. Vermeesch , Human Genetics, Center for Human Genetics, University of Leuven, Leuven, Belgium
J. P. Fryns , Human Genetics, Center for Human Genetics, University of Leuven, Leuven, Belgium
Background: Array-CGH is nowadays considered to be an essential aspect of the genetic analysis of patients with syndromic autism spectrum disorders (ASD) since in comparison to screening by cytogenetic methods, it allows to detect chromosomal imbalances at a higher resolution. These chromosomal imbalances (deletions or duplications) appear to be present in about 25% of patients with syndromic ASD.

Objectives: The detection of novel chromosomal imbalances may allow the delineation of new contiguous gene syndromes associated with ASD and may allow for the identification of new ASD genes.

Methods: 1-Mb array CGH was used as a screening method. The deletion was confirmed by fluorescence in situ hybridisation, the duplication by means of qPCR.

Results: We report on a female patient with autism, mild mental retardation, mild facial dysmorphism and a submicroscopic 5q11.2 deletion. This deletion of approximately 8 Mb in size is flanked by the clones CTD-2276024 and RP11-210O14. In addition, a 2Mb duplication on Xp22.31 (RP11-483M24->RP11-323F16) was detected. Interestingly, a similar but possibly slightly smaller deletion on 5q11.2 has previously been described in a boy with profound speech delay, obsessional play and echolalia (K Prescott et al. 2005). In contrast to the patient we describe, this boy presented additional malformations like a cardiac defect (tetralogy of Fallot), a bifid uvula, velopharyngeal insufficiency and short stature.

Conclusions: Since autistic behaviour is the only consistent finding in 2 patients with a similar deletion 5q11.2, the location of this deletion may identify a gene that is implicated in autism spectrum disorders.

Prescott K, Woodfine K, Stubbs P, Super M, Kerr B, Palmer R, Carter NP, Scambler P. A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome. Hum Genet. 2005 Jan;116(1-2):83-90.

See more of: Human Genetics Posters 2
See more of: Poster Presentations