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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

Oliva-Teles, Natália, de Stefano, Maria Chiara, Gallagher, Louise, Rakic, Severin, Jorge, Paula, Cuturilo, Goran, Markovska-Simoska, Silvana, Borg, Isabella, Wolstencroft, Jeanne, Tümer, Zeynep, Harwood, Adrian J., Kodra, Yllka and Skuse, David 2020. Rare pathogenic copy number variation in the 16p11.2 (BP4–BP5) region associated with neurodevelopmental and neuropsychiatric disorders: a review of the literature. International Journal of Environmental Research and Public Health 17 (24) , 9253. 10.3390/ijerph17249253

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Abstract

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.

Item Type: Article
Date Type: Published Online
Status: Published
Schools: Neuroscience and Mental Health Research Institute (NMHRI)
Biosciences
Additional Information: This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
Publisher: MDPI
ISSN: 1661-7827
Date of First Compliant Deposit: 4 January 2021
Date of Acceptance: 5 December 2020
Last Modified: 05 Jan 2021 10:00
URI: http://orca.cardiff.ac.uk/id/eprint/137241

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