The cognitive and behavioral phenotypes of individuals with CHRNA7 duplications

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. BeaudetC. P. Schaaf

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


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.

Original languageEnglish
Pages (from-to)549-562
Number of pages14
JournalJournal of autism and developmental disorders
Issue number3
StatePublished - Mar 2017


  • 15q13.3 microduplication
  • Autism spectrum disorder
  • Behavior
  • CHRNA7
  • Neurodevelopment


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