Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion

Abstract

Purpose: Autism is a chronic neurodevelopmental disorder characterized by deficits in reciprocal social interaction, language and communication, and by the presence of stereotypical behaviors. The disorder is a complex genetic trait with no known predisposing genes. We report the results of a pilot project to screen for aberrations in the gene-rich subtelomeric chromosomal regions of a cohort of children with autism. Methods: For our pilot project, we used a multiprobe system that includes probes for the subtelomeric regions of all human chromosomes. We assessed the subtelomeric regions of chromosomes from 10 children with a diagnosis of autism. Results: The screen identified one child with an apparent deletion of the subtelomeric region of chromosome 2q; nine children and pooled control samples yielded normal results. The deletion in our patient was confirmed with two other subtelomeric probes and a targeted cytogenetic study revealed a subtle difference in appearance for one chromosome 2 homologue. Conclusion: There have been several reports of children with dysmorphic features, autistic behaviors, and 2q deletions detectable with standard cytogenetic techniques. It may be that the distal region of chromosome 2q harbors a gene or genes that may predispose to autism. Genet Med 2002:4(1):10 -14.

Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR

“…Autistic features may also occur in patients with fragile X mental retardation (Gurling et al, 1997). There are nine published cases of autistic disorder or autistic type behaviors in patients with cytogenetic abnormalities involving chromosome 2q37 (Burd et al, 1988;Stein et al, 1992;Conrad et al, 1995;Ghaziuddin and Burmeister, 1999;Borg et al, 2000;Wolff et al, 2000). In these cases the size of the deletion was not determined by molecular methods.…”

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

“…To evaluate further diagnostic criteria for the 2q37 deletion syndrome, we compared the clinical findings of our patients and a representative cohort of other published patients carrying HDAC4 mutations or overlapping interstitial or terminal 2q37 deletions ( Figure 3, Table 1). 3,5,[15][16][17][18][19][20][21][22][23][24] The female to male ratio was 21/6. Regarding the body measurements, 4/18 of the patients were microcephalic, 8/24 revealed a short stature and 7/20 an overweight.…”

Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

“…In a pilot study, Wolff et al (2002) studied ten autistic children and ten controls evaluating the subtelomeric regions of all chromosomes using a multiprobe system. Among the participants, the only alteration detected was the deletion at 2q37 in one of the patients.…”

“…The distal end of the long arm of chromosome 2 is one of the regions that is possibly altered in some cases (Wolff et al, 2002;Lukusa et al, 2005;Segurado et al, 2005). Alterations at the 2q terminal have also been described in patients who have mental deficiency and major and minor malformations but are considered to be karyotypically normal using conventional cytogenetic techniques, with these alterations only being detected using fluorescent in situ hybridization (FISH) (Riegel and Schinzel, 2002).…”