The contribution of 7q33 copy number variations for intellectual disability
Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient)...
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| Veröffentlicht in: | Neurogenetics 2018-01, Vol.19 (1), p.27-40 |
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| creator | Lopes, Fátima Daniela Teixeira Torres, Fátima Lynch, Sally Ann Jorge, Arminda Sousa, Susana Silva, João Rendeiro, Paula Tavares, Purificação Fortuna, Ana Maria Maciel, P. |
| description | Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate intellectual disability (ID), dysmorphic features, and a behavioral phenotype characterized by aggressiveness and disinhibition. One family presents a small duplication in cis affecting CALD1 and AGBL3 genes, while the other four patients carry two larger deletions encompassing EXOC4, CALD1, AGBL3, and CNOT4. This work helps to refine the phenotype and narrow the minimal critical region involved in 7q33 CNVs. Comparison with similar cases and functional studies should help us clarify the relevance of the deleted genes for ID and behavioral alterations.
FEDER funds, through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the projects PIC/IC/83026/2007, PIC/IC/83013/2007, and POCI-01-0145-FEDER-007038. This work has also been funded by the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER) |
| doi_str_mv | 10.1007/s10048-017-0533-5 |
| format | Article |
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FEDER funds, through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the projects PIC/IC/83026/2007, PIC/IC/83013/2007, and POCI-01-0145-FEDER-007038. This work has also been funded by the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER)</description><identifier>ISSN: 1364-6745</identifier><identifier>EISSN: 1364-6753</identifier><identifier>DOI: 10.1007/s10048-017-0533-5</identifier><identifier>PMID: 29260337</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Heidelberg</publisher><subject>AGBL3 ; Biomedical and Life Sciences ; Biomedicine ; CALD1 ; Ciências Médicas ; CNOT4 ; Copy number ; Duplication ; EXOC4 ; Human Genetics ; Intellectual disabilities ; Medicina Básica ; Molecular Medicine ; Neurosciences ; Original Article ; Science & Technology ; Siblings</subject><ispartof>Neurogenetics, 2018-01, Vol.19 (1), p.27-40</ispartof><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2017</rights><rights>neurogenetics is a copyright of Springer, (2017). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c440t-55982658f4412a91747eb48f4755020f693c71e385f2fd6f0d11b14f6afa430a3</citedby><cites>FETCH-LOGICAL-c440t-55982658f4412a91747eb48f4755020f693c71e385f2fd6f0d11b14f6afa430a3</cites><orcidid>0000-0002-0920-6350</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10048-017-0533-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10048-017-0533-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29260337$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lopes, Fátima Daniela Teixeira</creatorcontrib><creatorcontrib>Torres, Fátima</creatorcontrib><creatorcontrib>Lynch, Sally Ann</creatorcontrib><creatorcontrib>Jorge, Arminda</creatorcontrib><creatorcontrib>Sousa, Susana</creatorcontrib><creatorcontrib>Silva, João</creatorcontrib><creatorcontrib>Rendeiro, Paula</creatorcontrib><creatorcontrib>Tavares, Purificação</creatorcontrib><creatorcontrib>Fortuna, Ana Maria</creatorcontrib><creatorcontrib>Maciel, P.</creatorcontrib><title>The contribution of 7q33 copy number variations for intellectual disability</title><title>Neurogenetics</title><addtitle>Neurogenetics</addtitle><addtitle>Neurogenetics</addtitle><description>Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate intellectual disability (ID), dysmorphic features, and a behavioral phenotype characterized by aggressiveness and disinhibition. One family presents a small duplication in cis affecting CALD1 and AGBL3 genes, while the other four patients carry two larger deletions encompassing EXOC4, CALD1, AGBL3, and CNOT4. This work helps to refine the phenotype and narrow the minimal critical region involved in 7q33 CNVs. Comparison with similar cases and functional studies should help us clarify the relevance of the deleted genes for ID and behavioral alterations.
FEDER funds, through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the projects PIC/IC/83026/2007, PIC/IC/83013/2007, and POCI-01-0145-FEDER-007038. This work has also been funded by the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER)</description><subject>AGBL3</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>CALD1</subject><subject>Ciências Médicas</subject><subject>CNOT4</subject><subject>Copy number</subject><subject>Duplication</subject><subject>EXOC4</subject><subject>Human Genetics</subject><subject>Intellectual disabilities</subject><subject>Medicina Básica</subject><subject>Molecular Medicine</subject><subject>Neurosciences</subject><subject>Original Article</subject><subject>Science & 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disability</atitle><jtitle>Neurogenetics</jtitle><stitle>Neurogenetics</stitle><addtitle>Neurogenetics</addtitle><date>2018-01</date><risdate>2018</risdate><volume>19</volume><issue>1</issue><spage>27</spage><epage>40</epage><pages>27-40</pages><issn>1364-6745</issn><eissn>1364-6753</eissn><abstract>Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate intellectual disability (ID), dysmorphic features, and a behavioral phenotype characterized by aggressiveness and disinhibition. One family presents a small duplication in cis affecting CALD1 and AGBL3 genes, while the other four patients carry two larger deletions encompassing EXOC4, CALD1, AGBL3, and CNOT4. This work helps to refine the phenotype and narrow the minimal critical region involved in 7q33 CNVs. Comparison with similar cases and functional studies should help us clarify the relevance of the deleted genes for ID and behavioral alterations.
FEDER funds, through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the projects PIC/IC/83026/2007, PIC/IC/83013/2007, and POCI-01-0145-FEDER-007038. This work has also been funded by the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER)</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Heidelberg</pub><pmid>29260337</pmid><doi>10.1007/s10048-017-0533-5</doi><tpages>14</tpages><orcidid>https://orcid.org/0000-0002-0920-6350</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | AGBL3 Biomedical and Life Sciences Biomedicine CALD1 Ciências Médicas CNOT4 Copy number Duplication EXOC4 Human Genetics Intellectual disabilities Medicina Básica Molecular Medicine Neurosciences Original Article Science & Technology Siblings |
| title | The contribution of 7q33 copy number variations for intellectual disability |
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