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CNTN6 copy number variations in 14 patients: A possible candidate gene for neurodevelopmental and neuropsychiatric disorders

Hu, J and Liao, J and Sathanoori, M and Kochmar, S and Sebastian, J and Yatsenko, SA and Surti, U (2015) CNTN6 copy number variations in 14 patients: A possible candidate gene for neurodevelopmental and neuropsychiatric disorders. Journal of Neurodevelopmental Disorders, 7 (1). ISSN 1866-1947

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Abstract

© 2015 Hu et al. Background: Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders. However, phenotypes have been reported in only a handful of patients with copy number variations involving CNTNs. Methods: From January 2009 to January 2013, 3724 patients ascertained through the University of Pittsburgh Medical Center were referred to our laboratory for clinical array comparative genomic hybridization testing. We screened this cohort of patients to identify individuals with the 3p26.3 copy number variations involving the CNTN6 gene, and then retrospectively reviewed the clinical information and family history of these patients to determine the association between the 3p26.3 copy number variations and neurodevelopmental disorders. Results: Fourteen of the 3724 patients had 3p26.3 copy number variations involving the CNTN6 gene. Thirteen of the 14 patients with these CNTN6 copy number variations presented with various neurodevelopmental disorders including developmental delay, autistic spectrum disorders, seizures and attention deficit hyperactivity disorder. Family history was available for 13 of the 14 patients. Twelve of the thirteen families have multiple members with neurodevelopmental and neuropsychiatric disorders including attention deficit hyperactivity disorder, seizures, autism spectrum disorder, intellectual disability, schizophrenia, depression, anxiety, learning disability, and bipolar disorder. Conclusions: Our findings suggest that deletion or duplication of the CNTN6 gene is associated with a wide spectrum of neurodevelopmental behavioral disorders.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Hu, Jjih9@pitt.eduJIH9
Liao, J
Sathanoori, M
Kochmar, S
Sebastian, J
Yatsenko, SAsay17@pitt.eduSAY17
Surti, Usurti@pitt.eduSURTI
Centers: Other Centers, Institutes, or Units > Magee-Women's Research Institute
Date: 6 August 2015
Date Type: Publication
Journal or Publication Title: Journal of Neurodevelopmental Disorders
Volume: 7
Number: 1
DOI or Unique Handle: 10.1186/s11689-015-9122-9
Schools and Programs: School of Medicine > Obstetrics, Gynecology, and Reproductive Sciences
School of Medicine > Pathology
Refereed: Yes
ISSN: 1866-1947
Date Deposited: 10 Aug 2016 17:12
Last Modified: 13 Sep 2018 14:55
URI: http://d-scholarship.pitt.edu/id/eprint/29216

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