Open Access Research

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

Daniela Di Benedetto1*, Giuseppa Di Vita4, Corrado Romano2, Mariangela Lo Giudice3, Girolamo Aurelio Vitello4, Marinella Zingale5, Lucia Grillo1, Lucia Castiglia1, Sebastiano Antonino Musumeci4 and Marco Fichera16

Author Affiliations

1 Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy

2 Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy

3 Unit of Neuromuscular Disease, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy

4 Unit of Neurology, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy

5 Unit of Psychology, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy

6 Medical Genetics, University of Catania, Catania, Italy

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Molecular Cytogenetics 2013, 6:4  doi:10.1186/1755-8166-6-4

Published: 17 January 2013

Abstract

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 and ID, and we propose that deletion of DTNBP1 and/or JARID2 contributes to the hypotonia phenotype.

Keywords:
6p22.3 deletion; Array-CGH; ASDs; Hypotonia; DTNBP1