6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.

ABSTRACT:

Unlabelled

Background

The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far.

Results

High resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID), Autism Spectrum Disorders (ASDs), and electroencephalographic anomalies. This deletion includes ATXN1, DTNBP1, JARID2 and MYLIP genes, known to play an important role in the brain, and the GMPR gene whose function in the nervous system is unknown.

Conclusions

We support the suggestion that ATXN1, DTNBP1, JARID2 and MYLIP are candidate genes for the pathophysiology of ASDs an

SUBMITTER: Di Benedetto D 

PROVIDER: S-EPMC3564794 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature