@article{85fbed205e504844a025e5167484579a,
title = "The cognitive and behavioral phenotypes of individuals with CHRNA7 duplications",
abstract = "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.",
keywords = "15q13.3 microduplication, Autism spectrum disorder, Behavior, CHRNA7, Neurodevelopment",
author = "Gillentine, {M. A.} and Berry, {L. N.} and Goin-Kochel, {R. P.} and Ali, {M. A.} and J. Ge and D. Guffey and Rosenfeld, {J. A.} and V. Hannig and P. Bader and M. Proud and M. Shinawi and Graham, {B. H.} and A. Lin and Lalani, {S. R.} and J. Reynolds and M. Chen and T. Grebe and Minard, {C. G.} and P. Stankiewicz and Beaudet, {A. L.} and Schaaf, {C. P.}",
note = "Funding Information: Acknowledgments This work was generously supported by the Doris Duke Charitable Foundation Grant #2011034. The project was supported in part by IDDRC Grant Number 1U54 HD083092 from the Eunice Kennedy Shriver National Institute of Child Health & Human Development. Cores: Tissue culture core, translational core. Miss Gillentine was supported by Grant Number T32GM008307 from the National Institute of General Medical Sciences. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of General Medical Sciences or the National Institutes of Health. Dr. Schaaf was generously supported by the Joan and Stanford Alexander Family. Publisher Copyright: {\textcopyright} Springer Science+Business Media New York 2017.",
year = "2017",
month = mar,
doi = "10.1007/s10803-016-2961-8",
language = "English",
volume = "47",
pages = "549--562",
journal = "Journal of Autism and Developmental Disorders",
issn = "0162-3257",
number = "3",
}