title: CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.
abstract: 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.
authors.affiliation: Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
authors.forename: Jie
authors.initials: J
authors.lastname: Hu
authors.affiliation: Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
authors.forename: Jun
authors.initials: J
authors.lastname: Liao
authors.affiliation: Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA ; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
authors.forename: Malini
authors.initials: M
authors.lastname: Sathanoori
authors.affiliation: Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
authors.forename: Sally
authors.initials: S
authors.lastname: Kochmar
authors.affiliation: Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Sebastian
authors.affiliation: Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA ; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
authors.forename: Svetlana A
authors.initials: SA
authors.lastname: Yatsenko
authors.affiliation: Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA ; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
authors.forename: Urvashi
authors.initials: U
authors.lastname: Surti
keywords: 3p26.3 CNV; Array CGH; CNTN6; CNTNs; Microdeletion; Microduplication; Neurodevelopmental disorders; Neuropsychiatric disorders