The Cognitive and Behavioral Phenotypes of Individuals with <Emphasis Type="Italic">CHRNA7</Emphasis> Duplications |
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| Authors: | 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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| Institution: | 1.Molecular and Human Genetics,Baylor College of Medicine,Houston,USA;2.Jan and Dan Duncan Neurological Research Institute,Texas Children’s Hospital,Houston,USA;3.Autism Center,Texas Children’s Hospital,Houston,USA;4.Department of Pediatrics,Baylor College of Medicine,Houston,USA;5.Dan L. Duncan Institute for Clinical and Translational Research,Baylor College of Medicine,Houston,USA;6.Department of Pediatrics,Vanderbilt University Medical Center,Nashville,USA;7.Northeast Indiana Genetics,Fort Wayne,USA;8.Department of Neurology,Texas Children’s Hospital, Baylor College of Medicine,Houston,USA;9.Department of Pediatrics, Division of Genetics and Genomic Medicine,Washington University School of Medicine in St. Louis,St. Louis,USA;10.Medical Genetics,MassGeneral Hospital for Children, Harvard Medical School,Boston,USA;11.Medical Genetics,Shodair Children’s Hospital,Helena,USA;12.Department of Pediatrics-Diabetes and Endocrinology,Texas Children’s Hospital, Baylor College of Medicine,Houston,USA;13.Department of Child Health, Division of Genetics and Metabolism,Phoenix Children’s Hospital, University of Arizona College of Medicine,Phoenix,USA |
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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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