3q29 duplications: A cohort of 46 patients and a literature review.

3q29 duplication chromosomal microarray analysis copy number variation genomic disorder multiple molecular diagnoses neurodevelopmental disorders

Journal

American journal of medical genetics. Part A

ISSN: 1552-4833

Titre abrégé: Am J Med Genet A

Pays: United States

ID NLM: 101235741

Informations de publication

Date de publication:
29 Feb 2024

Historique:

revised: 15 12 2023

received: 20 09 2023

accepted: 22 12 2023

medline: 29 2 2024

pubmed: 29 2 2024

entrez: 29 2 2024

Statut: aheadofprint

Résumé

Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with various associated features or reported as a susceptibility factor to the development of learning disabilities and neuropsychiatric disorders. The smallest region of overlap and the phenotype of 3q29 duplications remain uncertain. We here report a French cohort of 31 families with a 3q29 duplication identified by chromosomal microarray analysis (CMA), including 14 recurrent 1.6 Mb duplications, eight overlapping duplications (>1 Mb), and nine small duplications (<1 Mb). Additional genetic findings that may be involved in the phenotype were identified in 11 patients. Focusing on apparently isolated 3q29 duplications, patients present mainly mild NDD as suggested by a high rate of learning disabilities in contrast to a low proportion of patients with intellectual disabilities. Although some are de novo, most of the 3q29 duplications are inherited from a parent with a similar mild phenotype. Besides, the study of small 3q29 duplications does not provide evidence for any critical region. Our data suggest that the overlapping and recurrent 3q29 duplications seem to lead to mild NDD and that a severe or syndromic clinical presentation should warrant further genetic analyses.

Identifiants

DOI: 10.1002/ajmg.a.63531 PMID: 38421086

pubmed: 38421086

doi: 10.1002/ajmg.a.63531

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Pagination

e63531

Informations de copyright

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