title: 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.
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.
authors: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors: Daniela
authors: D
authors: Di Benedetto
authors: Unit of Neurology, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors: Giuseppa
authors: G
authors: Di Vita
authors: Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors: Corrado
authors: C
authors: Romano
authors: Unit of Neuromuscular Disease, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors: Mariangela Lo
authors: ML
authors: Giudice
authors: Unit of Neurology, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors: Girolamo Aurelio
authors: GA
authors: Vitello
authors: Unit of Psychology, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors: Marinella
authors: M
authors: Zingale
authors: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors: Lucia
authors: L
authors: Grillo
authors: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors: Lucia
authors: L
authors: Castiglia
authors: Unit of Neurology, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors: Sebastiano Antonino
authors: SA
authors: Musumeci
authors: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.|Medical Genetics, University of Catania, Catania, Italy.
authors: Marco
authors: M
authors: Fichera