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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)4
Number of pages1
JournalMolecular Cytogenetics
DOIs
Publication statusAccepted/In press - Jan 17 2013

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Autistic Disorder
Intellectual Disability
Genes
Phenotype
Muscle Hypotonia
Genetic Association Studies
Neurology
Nervous System
Brain
Autism Spectrum Disorder

ASJC Scopus subject areas

  • Biochemistry, medical
  • Molecular Medicine
  • Biochemistry
  • Genetics(clinical)
  • Molecular Biology
  • Genetics

Cite this

@article{f4acbc4b540e4bd0bfec6491e05f752b,
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.",
author = "{Di Benedetto}, Daniela and {Di Vita}, Giuseppa and Corrado Romano and {Lo Giudice}, Mariangela and Vitello, {Girolamo Aurelio} and Marinella Zingale and Lucia Grillo and Lucia Castiglia and Musumeci, {Sebastiano Antonino} and Marco Fichera",
year = "2013",
month = "1",
day = "17",
doi = "10.1186/1755-8166-6-4",
language = "English",
pages = "4",
journal = "Molecular Cytogenetics",
issn = "1755-8166",
publisher = "BioMed Central Ltd.",

}

TY - JOUR

T1 - 6p22.3 deletion

T2 - Report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

AU - Di Benedetto, Daniela

AU - Di Vita, Giuseppa

AU - Romano, Corrado

AU - Lo Giudice, Mariangela

AU - Vitello, Girolamo Aurelio

AU - Zingale, Marinella

AU - Grillo, Lucia

AU - Castiglia, Lucia

AU - Musumeci, Sebastiano Antonino

AU - Fichera, Marco

PY - 2013/1/17

Y1 - 2013/1/17

N2 - 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.

AB - 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.

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