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Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil

Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and well-characterized genetic conditions are the most common causes of...

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Autores principales: Pereira, Rodrigo Roncato, Pinto, Irene Plaza, Minasi, Lysa Bernardes, de Melo, Aldaires Vieira, da Cruz e Cunha, Damiana Mirian, Cruz, Alex Silva, Ribeiro, Cristiano Luiz, da Silva, Cláudio Carlos, de Melo e Silva, Daniela, da Cruz, Aparecido Divino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111347/
https://www.ncbi.nlm.nih.gov/pubmed/25061755
http://dx.doi.org/10.1371/journal.pone.0103117
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author Pereira, Rodrigo Roncato
Pinto, Irene Plaza
Minasi, Lysa Bernardes
de Melo, Aldaires Vieira
da Cruz e Cunha, Damiana Mirian
Cruz, Alex Silva
Ribeiro, Cristiano Luiz
da Silva, Cláudio Carlos
de Melo e Silva, Daniela
da Cruz, Aparecido Divino
author_facet Pereira, Rodrigo Roncato
Pinto, Irene Plaza
Minasi, Lysa Bernardes
de Melo, Aldaires Vieira
da Cruz e Cunha, Damiana Mirian
Cruz, Alex Silva
Ribeiro, Cristiano Luiz
da Silva, Cláudio Carlos
de Melo e Silva, Daniela
da Cruz, Aparecido Divino
author_sort Pereira, Rodrigo Roncato
collection PubMed
description Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and well-characterized genetic conditions are the most common causes of intellectual disability. Chromosomal Microarray Analysis analyses have made it possible to identify putatively pathogenic copy number variation that could explain the molecular etiology of intellectual disability. The aim of the current study was to identify possible submicroscopic genomic alterations using a high-density chromosomal microarray in a retrospective cohort of patients with otherwise undiagnosable intellectual disabilities referred by doctors from the public health system in Central Brazil. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had intellectual disability and a normal karyotype. The analysis detected 18 CNVs in 60% of patients. Pathogenic CNVs represented about 22%, so it was possible to propose the etiology of intellectual disability for these patients. Likely pathogenic and unknown clinical significance CNVs represented 28% and 50%, respectively. Inherited and de novo CNVs were equally distributed. We report the nature of CNVs in patients from Central Brazil, representing a population not yet screened by microarray technologies.
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spelling pubmed-41113472014-07-29 Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil Pereira, Rodrigo Roncato Pinto, Irene Plaza Minasi, Lysa Bernardes de Melo, Aldaires Vieira da Cruz e Cunha, Damiana Mirian Cruz, Alex Silva Ribeiro, Cristiano Luiz da Silva, Cláudio Carlos de Melo e Silva, Daniela da Cruz, Aparecido Divino PLoS One Research Article Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and well-characterized genetic conditions are the most common causes of intellectual disability. Chromosomal Microarray Analysis analyses have made it possible to identify putatively pathogenic copy number variation that could explain the molecular etiology of intellectual disability. The aim of the current study was to identify possible submicroscopic genomic alterations using a high-density chromosomal microarray in a retrospective cohort of patients with otherwise undiagnosable intellectual disabilities referred by doctors from the public health system in Central Brazil. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had intellectual disability and a normal karyotype. The analysis detected 18 CNVs in 60% of patients. Pathogenic CNVs represented about 22%, so it was possible to propose the etiology of intellectual disability for these patients. Likely pathogenic and unknown clinical significance CNVs represented 28% and 50%, respectively. Inherited and de novo CNVs were equally distributed. We report the nature of CNVs in patients from Central Brazil, representing a population not yet screened by microarray technologies. Public Library of Science 2014-07-25 /pmc/articles/PMC4111347/ /pubmed/25061755 http://dx.doi.org/10.1371/journal.pone.0103117 Text en © 2014 Pereira et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Pereira, Rodrigo Roncato
Pinto, Irene Plaza
Minasi, Lysa Bernardes
de Melo, Aldaires Vieira
da Cruz e Cunha, Damiana Mirian
Cruz, Alex Silva
Ribeiro, Cristiano Luiz
da Silva, Cláudio Carlos
de Melo e Silva, Daniela
da Cruz, Aparecido Divino
Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil
title Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil
title_full Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil
title_fullStr Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil
title_full_unstemmed Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil
title_short Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil
title_sort screening for intellectual disability using high-resolution cma technology in a retrospective cohort from central brazil
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111347/
https://www.ncbi.nlm.nih.gov/pubmed/25061755
http://dx.doi.org/10.1371/journal.pone.0103117
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