Abstract
BackgroundNeurodevelopmental 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.MethodsFrom 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.ResultsFourteen 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.ConclusionsOur findings suggest that deletion or duplication of the CNTN6 gene is associated with a wide spectrum of neurodevelopmental behavioral disorders.
Highlights
Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory
The CNTN6 gene, which encodes another member of the contactin family, mapped just distal to the CNTN4 gene is deleted in the 3p deletion syndrome
A recent study indicated that CNTN4, CNTN5, and CNTN6 proteins may be a part of the heteromeric receptor complexes and serve as ligands themselves [14]
Summary
Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Chromosome 3 copy number variations (CNVs) involving the CNTN4 gene have been reported to be associated with ASD in a few patients without any other classic 3p deletion syndrome phenotype in three independent studies using genome-wide SNP genotyping or microarray analysis [6,7,8]. Deletion or duplication of the CNTN6 gene may affect the function of the receptor complex and cause malfunction of the brain and nervous system. These CNVs involving the CNTN5 or CNTN6 gene alone have been reported in a handful of patients with either ASD or ID or DD [15,16,17,18]. Thirteen of the 14 patients have neurodevelopmental disorders (NDDs) and seven of the 14 patients have dysmorphic features
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