Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

Natália Oliva-Teles, 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 and David Skuse
Additional contact information
Natália Oliva-Teles: Centro de Genética Médica Doutor Jacinto Magalhães/Centro Hospitalar Universitário do Porto, 4099-001 Porto, Portugal
Maria Chiara de Stefano: Italian National Transplant Center, Italian National Institute of Health, 00161 Rome, Italy
Louise Gallagher: Trinity Institute of Neurosciences, Trinity College Dublin, University of Dublin, 152-160 Dublin, Ireland
Severin Rakic: Public Health Institute of Republic of Srpska, 78000 Banja Luka, Bosnia and Herzegovina
Paula Jorge: Centro de Genética Médica Doutor Jacinto Magalhães/Centro Hospitalar Universitário do Porto, 4099-001 Porto, Portugal
Goran Cuturilo: Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia
Silvana Markovska-Simoska: Macedonian Academy of Sciences and Arts, 1000 Skopje, North Macedonia
Isabella Borg: Department of Pathology, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, Malta
Jeanne Wolstencroft: UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK
Zeynep Tümer: Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhangen, Denmark
Adrian J. Harwood: Neuroscience and Mental Health Research Institute (NMHRI), & School of Biosciences, Cardiff University, Cardiff CF24 4HQ, UK
Yllka Kodra: National Centre for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy
David Skuse: UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK

IJERPH, 2020, vol. 17, issue 24, 1-14

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 (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2020
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