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15q13.3 duplication in two patients with childhood‐onset schizophrenia

We report two cases of paternally inherited 15q13.3 duplications in carriers diagnosed with childhood‐onset schizophrenia (COS), a rare neurodevelopmental disorder of proposed polygenic origin with onset in children before age 13. This study documents that the 15q13.3 deletion and duplication exhibi...

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Autores principales: Zhou, Dale, Gochman, Peter, Broadnax, Diane D., Rapoport, Judith L., Ahn, Kwangmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069586/
https://www.ncbi.nlm.nih.gov/pubmed/26968334
http://dx.doi.org/10.1002/ajmg.b.32439
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author Zhou, Dale
Gochman, Peter
Broadnax, Diane D.
Rapoport, Judith L.
Ahn, Kwangmi
author_facet Zhou, Dale
Gochman, Peter
Broadnax, Diane D.
Rapoport, Judith L.
Ahn, Kwangmi
author_sort Zhou, Dale
collection PubMed
description We report two cases of paternally inherited 15q13.3 duplications in carriers diagnosed with childhood‐onset schizophrenia (COS), a rare neurodevelopmental disorder of proposed polygenic origin with onset in children before age 13. This study documents that the 15q13.3 deletion and duplication exhibit pathogenicity for COS, with both copy number variants (CNVs) sharing a disrupted CHRNA7 gene. CHRNA7 encodes the neuronal alpha7 nicotinic acetylcholine receptor (α7nAChR) and is a candidate gene that has been suggested as a pathophysiological process mediating adult‐onset schizophrenia (AOS) and other neurodevelopmental disorders. These results support the incomplete penetrance and variable expressivity of this CNV and represent the first report of 15q13.3 duplication carriers exhibiting COS. Published 2016. This article is a U.S. Government work and is in the public domain in the USA. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics published by Wiley Periodicals, Inc.
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spelling pubmed-50695862016-11-01 15q13.3 duplication in two patients with childhood‐onset schizophrenia Zhou, Dale Gochman, Peter Broadnax, Diane D. Rapoport, Judith L. Ahn, Kwangmi Am J Med Genet B Neuropsychiatr Genet Research Articles We report two cases of paternally inherited 15q13.3 duplications in carriers diagnosed with childhood‐onset schizophrenia (COS), a rare neurodevelopmental disorder of proposed polygenic origin with onset in children before age 13. This study documents that the 15q13.3 deletion and duplication exhibit pathogenicity for COS, with both copy number variants (CNVs) sharing a disrupted CHRNA7 gene. CHRNA7 encodes the neuronal alpha7 nicotinic acetylcholine receptor (α7nAChR) and is a candidate gene that has been suggested as a pathophysiological process mediating adult‐onset schizophrenia (AOS) and other neurodevelopmental disorders. These results support the incomplete penetrance and variable expressivity of this CNV and represent the first report of 15q13.3 duplication carriers exhibiting COS. Published 2016. This article is a U.S. Government work and is in the public domain in the USA. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics published by Wiley Periodicals, Inc. John Wiley and Sons Inc. 2016-03-10 2016-09 /pmc/articles/PMC5069586/ /pubmed/26968334 http://dx.doi.org/10.1002/ajmg.b.32439 Text en Published 2016. This article is a U.S. Government work and is in the public domain in the USA. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Research Articles
Zhou, Dale
Gochman, Peter
Broadnax, Diane D.
Rapoport, Judith L.
Ahn, Kwangmi
15q13.3 duplication in two patients with childhood‐onset schizophrenia
title 15q13.3 duplication in two patients with childhood‐onset schizophrenia
title_full 15q13.3 duplication in two patients with childhood‐onset schizophrenia
title_fullStr 15q13.3 duplication in two patients with childhood‐onset schizophrenia
title_full_unstemmed 15q13.3 duplication in two patients with childhood‐onset schizophrenia
title_short 15q13.3 duplication in two patients with childhood‐onset schizophrenia
title_sort 15q13.3 duplication in two patients with childhood‐onset schizophrenia
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069586/
https://www.ncbi.nlm.nih.gov/pubmed/26968334
http://dx.doi.org/10.1002/ajmg.b.32439
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