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Gepubliceerd in: Journal of Autism and Developmental Disorders 3/2017

16-11-2016 | Original Paper

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

Auteurs: 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

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2017

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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.
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Literatuur
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Metagegevens
Titel
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
Auteurs
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
Publicatiedatum
16-11-2016
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 3/2017
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-016-2961-8

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