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      Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

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          ABSTRACT

          Objective

          To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype.

          Methods

          Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients.

          Results

          Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants.

          Conclusion

          The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.

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          Most cited references31

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          A high-resolution survey of deletion polymorphism in the human genome.

          Donald F Conrad, T. Andrews, Nigel P Carter … (2006)
          Recent work has shown that copy number polymorphism is an important class of genetic variation in human genomes. Here we report a new method that uses SNP genotype data from parent-offspring trios to identify polymorphic deletions. We applied this method to data from the International HapMap Project to produce the first high-resolution population surveys of deletion polymorphism. Approximately 100 of these deletions have been experimentally validated using comparative genome hybridization on tiling-resolution oligonucleotide microarrays. Our analysis identifies a total of 586 distinct regions that harbor deletion polymorphisms in one or more of the families. Notably, we estimate that typical individuals are hemizygous for roughly 30-50 deletions larger than 5 kb, totaling around 550-750 kb of euchromatic sequence across their genomes. The detected deletions span a total of 267 known and predicted genes. Overall, however, the deleted regions are relatively gene-poor, consistent with the action of purifying selection against deletions. Deletion polymorphisms may well have an important role in the genetics of complex traits; however, they are not directly observed in most current gene mapping studies. Our new method will permit the identification of deletion polymorphisms in high-density SNP surveys of trio or other family data.
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            Array comparative genomic hybridization and its applications in cancer.

            Donna Albertson, Daniel Pinkel (2005)
            Alteration in DNA copy number is one of the many ways in which gene expression and function may be modified. Some variations are found among normal individuals, others occur in the course of normal processes in some species and still others participate in causing various disease states. For example, many defects in human development are due to gains and losses of chromosomes and chromosomal segments that occur before or shortly after fertilization, and DNA dosage-alteration changes occurring in somatic cells are frequent contributors to cancer. Detecting these aberrations and interpreting them in the context of broader knowledge facilitates the identification of crucial genes and pathways involved in biological processes and disease. Over the past several years, array comparative genomic hybridization has proven its value for analyzing DNA copy-number variations. Here, we discuss the state of the art of array comparative genomic hybridization and its applications in cancer, emphasizing general concepts rather than specific results.
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              Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

              Christian Gilissen, Martijn H Breuning, Stieneke van der Brink … (2012)
              We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Einstein (Sao Paulo)
                Journal ID (iso-abbrev): Einstein (Sao Paulo)
                Journal ID (publisher-id): eins
                Title: Einstein
                Publisher: Instituto Israelita de Ensino e Pesquisa Albert Einstein
                ISSN (Print): 1679-4508
                ISSN (Electronic): 2317-6385
                Publication date (Print and electronic): Jan-Mar 2016
                Publication date (Print): Jan-Mar 2016
                Volume: 14
                Issue: 1
                Pages: 30-34
                Affiliations
                [1 ]Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
                [2 ]Faculdade de Ciências Biomédicas do Espírito Santo, Cariacica, ES, Brazil.
                [3 ]Laboratório de Genética do Espírito Santo, Vitória, ES, Brazil.
                [1 ] Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
                [2 ] Faculdade de Ciências Biomédicas do Espírito Santo, Cariacica, ES, Brasil.
                [3 ] Laboratório de Genética do Espírito Santo, Vitória, ES, Brasil.
                Author notes
                [Corresponding author ]: Rodrigo Pratte-Santos – Rua Bolívar de Abreu, 48 – Campo Grande – Zip code: 29146-330 – Cariacica, ES, Brazil – Phone: (55 27) 3421-2563 – E-mail: rodrigopratte@ 123456hotmail.com

                Conflict of interests: none.

                Autor correspondente: Rodrigo Pratte-Santos – Rua Bolívar de Abreu, 48 – Campo Grande – CEP: 29146-330 – Cariacica, ES, Brasil – Tel.: (27) 3421-2563 – E-mail: rodrigopratte@hotmail.com

                Conflitos de interesse: não há.

                Article
                Publisher ID: S1679-45082016AO3592
                DOI: 10.1590/S1679-45082016AO3592
                PMC ID: 4872914
                PubMed ID: 27074231
                SO-VID: 2f9ffb05-9ef7-4d9b-a613-b748fd8bff12
                License:

                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 work is properly cited.

                History
                Date received : 20 November 2015
                Date accepted : 22 January 2016
                Page count
                Figures: 4, Tables: 2, Equations: 0, References: 18, Pages: 5
                Categories
                Subject: Original Article

                Keywords: chromosome aberrations,comparative genomic hybridization/methods,karyotype,body dysmorphic disorders,intellectual disability,aberrações cromossômicas,hibridização genômica comparativa/métodos,cariótipo,transtornos dismórficos corporais,deficiência intelectual
                Data availability:
                Keywords: chromosome aberrations, comparative genomic hybridization/methods, karyotype, body dysmorphic disorders, intellectual disability, aberrações cromossômicas, hibridização genômica comparativa/métodos, cariótipo, transtornos dismórficos corporais, deficiência intelectual

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