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Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage

Duplication of chromosome 22q11.2 (LCR A-D) has been reported at higher frequencies in clinical samples than the general population, but phenotypes vary widely. Triplication (4 copies) is rare, but studying the associated phenotype may provide insight into dosage-sensitivity of the genes in this chr...

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Autores principales: Dale, Breanne, Modi, Bonnie MacKinnon, Jilderda, Sanne, McConnell, Beth, Hoang, Ny, Swaroop, Pooja, Falcon, Jhoan, Thiruvahindrapuram, Bhooma, Walker, Susan, Scherer, Stephen W., Stavropoulos, D. James, Drmic, Irene E., Carter, Melissa T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677976/
https://www.ncbi.nlm.nih.gov/pubmed/29263838
http://dx.doi.org/10.1038/s41525-017-0031-6
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author Dale, Breanne
Modi, Bonnie MacKinnon
Jilderda, Sanne
McConnell, Beth
Hoang, Ny
Swaroop, Pooja
Falcon, Jhoan
Thiruvahindrapuram, Bhooma
Walker, Susan
Scherer, Stephen W.
Stavropoulos, D. James
Drmic, Irene E.
Carter, Melissa T.
author_facet Dale, Breanne
Modi, Bonnie MacKinnon
Jilderda, Sanne
McConnell, Beth
Hoang, Ny
Swaroop, Pooja
Falcon, Jhoan
Thiruvahindrapuram, Bhooma
Walker, Susan
Scherer, Stephen W.
Stavropoulos, D. James
Drmic, Irene E.
Carter, Melissa T.
author_sort Dale, Breanne
collection PubMed
description Duplication of chromosome 22q11.2 (LCR A-D) has been reported at higher frequencies in clinical samples than the general population, but phenotypes vary widely. Triplication (4 copies) is rare, but studying the associated phenotype may provide insight into dosage-sensitivity of the genes in this chromosomal interval. We describe a proband with a triplication, specifically a “double duplication” (two copies per chromosome) of the 22q11.2 region, while his parents and two siblings each have a single duplication (3 copies). The proband had a heart malformation, dysmorphic features, and learning and socialization deficits, whereas the other family members did not. This family illustrates that while duplication of the 22q11.2 may not be sufficient to cause clinically significant neurodevelopmental or health-related phenotypes, triplication of the same region may result in a phenotype characterized by a mild neurodevelopmental disorder, facial dysmorphism, and possibly cardiac anomalies.
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spelling pubmed-56779762017-12-20 Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage Dale, Breanne Modi, Bonnie MacKinnon Jilderda, Sanne McConnell, Beth Hoang, Ny Swaroop, Pooja Falcon, Jhoan Thiruvahindrapuram, Bhooma Walker, Susan Scherer, Stephen W. Stavropoulos, D. James Drmic, Irene E. Carter, Melissa T. NPJ Genom Med Case Report Duplication of chromosome 22q11.2 (LCR A-D) has been reported at higher frequencies in clinical samples than the general population, but phenotypes vary widely. Triplication (4 copies) is rare, but studying the associated phenotype may provide insight into dosage-sensitivity of the genes in this chromosomal interval. We describe a proband with a triplication, specifically a “double duplication” (two copies per chromosome) of the 22q11.2 region, while his parents and two siblings each have a single duplication (3 copies). The proband had a heart malformation, dysmorphic features, and learning and socialization deficits, whereas the other family members did not. This family illustrates that while duplication of the 22q11.2 may not be sufficient to cause clinically significant neurodevelopmental or health-related phenotypes, triplication of the same region may result in a phenotype characterized by a mild neurodevelopmental disorder, facial dysmorphism, and possibly cardiac anomalies. Nature Publishing Group UK 2017-09-28 /pmc/articles/PMC5677976/ /pubmed/29263838 http://dx.doi.org/10.1038/s41525-017-0031-6 Text en © The Author(s) 2017 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Case Report
Dale, Breanne
Modi, Bonnie MacKinnon
Jilderda, Sanne
McConnell, Beth
Hoang, Ny
Swaroop, Pooja
Falcon, Jhoan
Thiruvahindrapuram, Bhooma
Walker, Susan
Scherer, Stephen W.
Stavropoulos, D. James
Drmic, Irene E.
Carter, Melissa T.
Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
title Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
title_full Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
title_fullStr Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
title_full_unstemmed Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
title_short Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
title_sort atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677976/
https://www.ncbi.nlm.nih.gov/pubmed/29263838
http://dx.doi.org/10.1038/s41525-017-0031-6
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