Dataset Information

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

SUBMITTER: Di Benedetto D

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

REPOSITORIES: biostudies-literature

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

Di Benedetto Daniela D Di Vita Giuseppa G Romano Corrado C Giudice Mariangela Lo ML Vitello Girolamo Aurelio GA Zingale Marinella M Grillo Lucia L Castiglia Lucia L Musumeci Sebastiano Antonino SA Fichera Marco M

Molecular cytogenetics 20130117 1

<h4>Unlabelled</h4><h4>Background</h4>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.<h4>Results</h4>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 deleti ...[more]

PMID: 23324214

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Project description:BackgroundAccurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.MethodsAll births (1983-2005; n = 566,225) including CFA births (comprising orofacial clefts, craniosynostosis, craniofacial microsomia and mandibulofacial dysostosis) surviving to 5 years were identified from the birth, death, birth defects and midwives population data sets. Linked data from these data sets were followed for a minimum of 5 years from birth until 2010 in the intellectual disability database to identify ID and ASD. These associations were examined using a modified Poisson regression.ResultsPrevalence of ID and ASD was higher among CFA (especially with additional anomalies) than those without [prevalence ratio 5.27, 95% CI 4.44, 6.25]. It was higher among CFA than those with other gastrointestinal and urogenital anomalies but lower than nervous system and chromosomal anomalies. Children with CFA and severe ID had a higher proportion of nervous system anomalies.ConclusionsFindings indicate increased ID and ASD among CFA but lower than nervous system and chromosomal anomalies. This population evidence can improve early identification of ID/ASD among CFA and support service planning.ImpactOur study found about one in ten children born with craniofacial anomalies (CFA) are later identified with intellectual disability (ID). Prevalence of ID among CFA was higher than those with other gastrointestinal, urogenital, and musculoskeletal birth defects but lower than those with the nervous system and chromosomal abnormalities. Most children with craniofacial anomalies have a mild-to-moderate intellectual disability with an unknown aetiology. On average, intellectual disability is identified 2 years later for children born with non-syndromic craniofacial anomalies than those with syndromic conditions. Our findings can improve the early identification of ID/ASD among CFA and support service planning.

Dataset Information

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

Publications

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

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