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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

Research output: Contribution to journalReviewResearchpeer-review

Harvard

Oliva-Teles, N, de Stefano, MC, Gallagher, L, Rakic, S, Jorge, P, Cuturilo, G, Markovska-Simoska, S, Borg, I, Wolstencroft, J, Tümer, Z, Harwood, AJ, Kodra, Y & Skuse, D 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, vol. 17, no. 24, pp. 9253. https://doi.org/10.3390/ijerph17249253

APA

Oliva-Teles, N., de Stefano, M. C., Gallagher, L., Rakic, S., Jorge, P., Cuturilo, G., Markovska-Simoska, S., Borg, I., Wolstencroft, J., Tümer, Z., Harwood, A. J., Kodra, Y., & Skuse, D. (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. https://doi.org/10.3390/ijerph17249253

CBE

MLA

Vancouver

Author

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 ; Skuse, David. / Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders : A Review of the Literature. In: International Journal of Environmental Research and Public Health. 2020 ; Vol. 17, No. 24. pp. 9253.

Bibtex

@article{695ffc63fa4c4ae0966a361507ca94d0,
title = "Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature",
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.",
keywords = "16p11.2 deletion, 16p11.2 duplication, BP4–BP5, Copy numbers variants, Neurodevelopmental disorders, Rare diseases",
author = "Nat{\'a}lia Oliva-Teles and {de Stefano}, {Maria Chiara} and Louise Gallagher and Severin Rakic and Paula Jorge and Goran Cuturilo and Silvana Markovska-Simoska and Isabella Borg and Jeanne Wolstencroft and Zeynep T{\"u}mer and Harwood, {Adrian J} and Yllka Kodra and David Skuse",
year = "2020",
month = dec,
day = "2",
doi = "10.3390/ijerph17249253",
language = "English",
volume = "17",
pages = "9253",
journal = "International Journal of Environmental Research and Public Health",
issn = "1661-7827",
publisher = "MDPI AG",
number = "24",

}

RIS

TY - JOUR

T1 - Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders

T2 - A Review of the Literature

AU - Oliva-Teles, Natália

AU - de Stefano, Maria Chiara

AU - Gallagher, Louise

AU - Rakic, Severin

AU - Jorge, Paula

AU - Cuturilo, Goran

AU - Markovska-Simoska, Silvana

AU - Borg, Isabella

AU - Wolstencroft, Jeanne

AU - Tümer, Zeynep

AU - Harwood, Adrian J

AU - Kodra, Yllka

AU - Skuse, David

PY - 2020/12/2

Y1 - 2020/12/2

N2 - 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.

AB - 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.

KW - 16p11.2 deletion

KW - 16p11.2 duplication

KW - BP4–BP5

KW - Copy numbers variants

KW - Neurodevelopmental disorders

KW - Rare diseases

U2 - 10.3390/ijerph17249253

DO - 10.3390/ijerph17249253

M3 - Review

C2 - 33321999

VL - 17

SP - 9253

JO - International Journal of Environmental Research and Public Health

JF - International Journal of Environmental Research and Public Health

SN - 1661-7827

IS - 24

ER -

ID: 61714454