Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature
<b< </b<Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsy...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Natália Oliva-Teles [verfasserIn] Maria Chiara de Stefano [verfasserIn] Louise Gallagher [verfasserIn] Severin Rakic [verfasserIn] Paula Jorge [verfasserIn] Goran Cuturilo [verfasserIn] Silvana Markovska-Simoska [verfasserIn] Isabella Borg [verfasserIn] Jeanne Wolstencroft [verfasserIn] Zeynep Tümer [verfasserIn] Adrian J. Harwood [verfasserIn] Yllka Kodra [verfasserIn] David Skuse [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2020 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
In: International Journal of Environmental Research and Public Health - MDPI AG, 2005, 17(2020), 9253, p 9253 |
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| Übergeordnetes Werk: |
volume:17 ; year:2020 ; number:9253, p 9253 |
| Links: |
Link aufrufen |
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| DOI / URN: |
10.3390/ijerph17249253 |
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| Katalog-ID: |
DOAJ015961605 |
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10.3390/ijerph17249253 doi (DE-627)DOAJ015961605 (DE-599)DOAJ66836eaec520405eab30bd393275b1b5 DE-627 ger DE-627 rakwb eng Natália Oliva-Teles verfasserin aut Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <b< </b<Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers’ cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting. 16p11.2 deletion 16p11.2 duplication BP4–BP5 copy numbers variants neurodevelopmental disorders rare diseases Medicine R Maria Chiara de Stefano verfasserin aut Louise Gallagher verfasserin aut Severin Rakic verfasserin aut Paula Jorge verfasserin aut Goran Cuturilo verfasserin aut Silvana Markovska-Simoska verfasserin aut Isabella Borg verfasserin aut Jeanne Wolstencroft verfasserin aut Zeynep Tümer verfasserin aut Adrian J. Harwood verfasserin aut Yllka Kodra verfasserin aut David Skuse verfasserin aut In International Journal of Environmental Research and Public Health MDPI AG, 2005 17(2020), 9253, p 9253 (DE-627)477992463 (DE-600)2175195-X 16604601 nnns volume:17 year:2020 number:9253, p 9253 https://doi.org/10.3390/ijerph17249253 kostenfrei https://doaj.org/article/66836eaec520405eab30bd393275b1b5 kostenfrei https://www.mdpi.com/1660-4601/17/24/9253 kostenfrei https://doaj.org/toc/1661-7827 Journal toc kostenfrei https://doaj.org/toc/1660-4601 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_2153 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2020 9253, p 9253 |
| spelling |
10.3390/ijerph17249253 doi (DE-627)DOAJ015961605 (DE-599)DOAJ66836eaec520405eab30bd393275b1b5 DE-627 ger DE-627 rakwb eng Natália Oliva-Teles verfasserin aut Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <b< </b<Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers’ cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting. 16p11.2 deletion 16p11.2 duplication BP4–BP5 copy numbers variants neurodevelopmental disorders rare diseases Medicine R Maria Chiara de Stefano verfasserin aut Louise Gallagher verfasserin aut Severin Rakic verfasserin aut Paula Jorge verfasserin aut Goran Cuturilo verfasserin aut Silvana Markovska-Simoska verfasserin aut Isabella Borg verfasserin aut Jeanne Wolstencroft verfasserin aut Zeynep Tümer verfasserin aut Adrian J. Harwood verfasserin aut Yllka Kodra verfasserin aut David Skuse verfasserin aut In International Journal of Environmental Research and Public Health MDPI AG, 2005 17(2020), 9253, p 9253 (DE-627)477992463 (DE-600)2175195-X 16604601 nnns volume:17 year:2020 number:9253, p 9253 https://doi.org/10.3390/ijerph17249253 kostenfrei https://doaj.org/article/66836eaec520405eab30bd393275b1b5 kostenfrei https://www.mdpi.com/1660-4601/17/24/9253 kostenfrei https://doaj.org/toc/1661-7827 Journal toc kostenfrei https://doaj.org/toc/1660-4601 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_2153 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2020 9253, p 9253 |
| allfields_unstemmed |
10.3390/ijerph17249253 doi (DE-627)DOAJ015961605 (DE-599)DOAJ66836eaec520405eab30bd393275b1b5 DE-627 ger DE-627 rakwb eng Natália Oliva-Teles verfasserin aut Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <b< </b<Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers’ cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting. 16p11.2 deletion 16p11.2 duplication BP4–BP5 copy numbers variants neurodevelopmental disorders rare diseases Medicine R Maria Chiara de Stefano verfasserin aut Louise Gallagher verfasserin aut Severin Rakic verfasserin aut Paula Jorge verfasserin aut Goran Cuturilo verfasserin aut Silvana Markovska-Simoska verfasserin aut Isabella Borg verfasserin aut Jeanne Wolstencroft verfasserin aut Zeynep Tümer verfasserin aut Adrian J. Harwood verfasserin aut Yllka Kodra verfasserin aut David Skuse verfasserin aut In International Journal of Environmental Research and Public Health MDPI AG, 2005 17(2020), 9253, p 9253 (DE-627)477992463 (DE-600)2175195-X 16604601 nnns volume:17 year:2020 number:9253, p 9253 https://doi.org/10.3390/ijerph17249253 kostenfrei https://doaj.org/article/66836eaec520405eab30bd393275b1b5 kostenfrei https://www.mdpi.com/1660-4601/17/24/9253 kostenfrei https://doaj.org/toc/1661-7827 Journal toc kostenfrei https://doaj.org/toc/1660-4601 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_2153 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2020 9253, p 9253 |
| allfieldsGer |
10.3390/ijerph17249253 doi (DE-627)DOAJ015961605 (DE-599)DOAJ66836eaec520405eab30bd393275b1b5 DE-627 ger DE-627 rakwb eng Natália Oliva-Teles verfasserin aut Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <b< </b<Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers’ cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting. 16p11.2 deletion 16p11.2 duplication BP4–BP5 copy numbers variants neurodevelopmental disorders rare diseases Medicine R Maria Chiara de Stefano verfasserin aut Louise Gallagher verfasserin aut Severin Rakic verfasserin aut Paula Jorge verfasserin aut Goran Cuturilo verfasserin aut Silvana Markovska-Simoska verfasserin aut Isabella Borg verfasserin aut Jeanne Wolstencroft verfasserin aut Zeynep Tümer verfasserin aut Adrian J. Harwood verfasserin aut Yllka Kodra verfasserin aut David Skuse verfasserin aut In International Journal of Environmental Research and Public Health MDPI AG, 2005 17(2020), 9253, p 9253 (DE-627)477992463 (DE-600)2175195-X 16604601 nnns volume:17 year:2020 number:9253, p 9253 https://doi.org/10.3390/ijerph17249253 kostenfrei https://doaj.org/article/66836eaec520405eab30bd393275b1b5 kostenfrei https://www.mdpi.com/1660-4601/17/24/9253 kostenfrei https://doaj.org/toc/1661-7827 Journal toc kostenfrei https://doaj.org/toc/1660-4601 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_2153 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2020 9253, p 9253 |
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Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature |
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<b< </b<Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers’ cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting. |
| abstractGer |
<b< </b<Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers’ cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting. |
| abstract_unstemmed |
<b< </b<Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers’ cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting. |
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9253, p 9253 |
| title_short |
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature |
| url |
https://doi.org/10.3390/ijerph17249253 https://doaj.org/article/66836eaec520405eab30bd393275b1b5 https://www.mdpi.com/1660-4601/17/24/9253 https://doaj.org/toc/1661-7827 https://doaj.org/toc/1660-4601 |
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| author2 |
Maria Chiara de Stefano Louise Gallagher Severin Rakic Paula Jorge Goran Cuturilo Silvana Markovska-Simoska Isabella Borg Jeanne Wolstencroft Zeynep Tümer Adrian J. Harwood Yllka Kodra David Skuse |
| author2Str |
Maria Chiara de Stefano Louise Gallagher Severin Rakic Paula Jorge Goran Cuturilo Silvana Markovska-Simoska Isabella Borg Jeanne Wolstencroft Zeynep Tümer Adrian J. Harwood Yllka Kodra David Skuse |
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| doi_str |
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| up_date |
2024-07-03T18:09:56.191Z |
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