The pleiotropic spectrum of proximal 16p11.2 CNVs.
Détails
ID Serval
serval:BIB_BD9ABD973D1F
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
The pleiotropic spectrum of proximal 16p11.2 CNVs.
Périodique
American journal of human genetics
ISSN
1537-6605 (Electronic)
ISSN-L
0002-9297
Statut éditorial
In Press
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article ; Review
Publication Status: aheadofprint
Publication Status: aheadofprint
Résumé
Recurrent genomic rearrangements at 16p11.2 BP4-5 represent one of the most common causes of genomic disorders. Originally associated with increased risk for autism spectrum disorder, schizophrenia, and intellectual disability, as well as adiposity and head circumference, these CNVs have since been associated with a plethora of phenotypic alterations, albeit with high variability in expressivity and incomplete penetrance. Here, we comprehensively review the pleiotropy associated with 16p11.2 BP4-5 rearrangements to shine light on its full phenotypic spectrum. Illustrating this phenotypic heterogeneity, we expose many parallels between findings gathered from clinical versus population-based cohorts, which often point to the same physiological systems, and emphasize the role of the CNV beyond neuropsychiatric and anthropometric traits. Revealing the complex and variable clinical manifestations of this CNV is crucial for accurate diagnosis and personalized treatment strategies for carrier individuals. Furthermore, we discuss areas of research that will be key to identifying factors contributing to phenotypic heterogeneity and gaining mechanistic insights into the molecular pathways underlying observed associations, while demonstrating how diversity in affected individuals, cohorts, experimental models, and analytical approaches can catalyze discoveries.
Mots-clé
multi-system disorder, penetrance, pleiotropy, proximal 16p11.2 BP4-5 CNV, structural variant, variable expressivity
Pubmed
Open Access
Oui
Création de la notice
04/10/2024 14:22
Dernière modification de la notice
08/10/2024 6:06