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16-11-2016 | Original Paper | Uitgave 3/2017

Journal of Autism and Developmental Disorders 3/2017

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

Journal of Autism and Developmental Disorders > Uitgave 3/2017
M. A. Gillentine, L. N. Berry, R. P. Goin-Kochel, M. A. Ali, J. Ge, D. Guffey, J. A. Rosenfeld, V. Hannig, P. Bader, M. Proud, M. Shinawi, B. H. Graham, A. Lin, S. R. Lalani, J. Reynolds, M. Chen, T. Grebe, C. G. Minard, P. Stankiewicz, A. L. Beaudet, C. P. Schaaf
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Electronic supplementary material

The online version of this article (doi:10.​1007/​s10803-016-2961-8) contains supplementary material, which is available to authorized users.
The original version of this article was revised: The author name T. Grebe was misspelled as T. Greb. This has been corrected in this version.
An erratum to this article is available at http://​dx.​doi.​org/​10.​1007/​s10803-017-3047-y.


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.

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Extra materiaal
Supplementary material 1 (DOCX 92 KB)
Supplementary material 2 (DOCX 109 KB)
Supplementary material 3 (DOCX 129 KB)
Supplementary material 4 (DOCX 742 KB)
Supplementary material 5 (DOCX 185 KB)
Supplementary material 6 (XLSX 31 KB)
Supplementary material 7 (XLSX 27 KB)
Supplementary material 8 (XLSX 46 KB)
Supplementary material 9 (XLSX 42 KB)
Supplementary material 10 (XLSX 45 KB)
Supplementary material 11 (XLSX 51 KB)
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