ERIC Number: EJ1133649
Record Type: Journal
Publication Date: 2017-Mar
Abstractor: As Provided
The Cognitive and Behavioral Phenotypes of Individuals with "CHRNA7" Duplications
Gillentine, M. A.; Berry, L. N.; Goin-Kochel, R. P.; Ali, M. A.; Ge, J.; Guffey, D.; Rosenfeld, J. A.; Hannig, V.; Bader, P.; Proud, M.; Shinawi, M.; Graham, B. H.; Lin, A.; Lalani, S. R.; Reynolds, J.; Chen, M.; Grebe, T.; Minard, C. G.; Stankiewicz, P.; Beaudet, A. L.; Schaaf, C. P.
Journal of Autism and Developmental Disorders, v47 n3 p549-562 Mar 2017
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and "CHRNA7" implicated as a candidate gene. However, the pathogenicity of duplications of "CHRNA7" is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving "CHRNA7," identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As "CHRNA7" duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals.
Descriptors: Children, Genetics, Developmental Delays, Intellectual Disability, Pervasive Developmental Disorders, Autism, Attention Deficit Hyperactivity Disorder, Genetic Disorders
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Sponsor: National Institute of General Medical Sciences (NIH//DHHS); Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (NIH), Intellectual and Developmental Disabilities Branch (IDDB)
Authoring Institution: N/A
Grant or Contract Numbers: 1U54HD083092; T32GM008307