3q29 duplications: A cohort of 46 patients and a literature review Article Swipe
Marie Massier
,
Martine Doco‐Fenzy
,
Matthieu Egloff
,
Xavier Le Guillou
,
Gwenaël Le Guyader
,
Sylvia Redon
,
Caroline Bénech
,
K. Le Millier
,
Kévin Uguen
,
Juliette Ropars
,
Elise Sacaze
,
Séverine Audebert‐Bellanger
,
Andreea Apetrei
,
Arnaud Molin
,
Nicolas Gruchy
,
Aline Vincent‐Devulder
,
Marta Spodenkiewicz
,
Clémence Jacquin
,
Gauthier Loron
,
Marie Thibaud
,
Geoffroy Delplancq
,
Sophie Brisset
,
Marion Lesieur‐Sebellin
,
Valérie Malan
,
Serge Romana
,
Marlène Rio
,
Sandrine Marlin
,
Jeanne Amiel
,
Valentine Marquet
,
Benjamin Dauriat
,
Kamran Moradkhani
,
Sandra Mercier
,
Bertrand Isidor
,
Stéphanie Arpin
,
Mathilde Pujalte
,
Guillaume Jedraszak
,
Céline Pebrel‐Richard
,
Gaëlle Salaün
,
Fanny Laffargue
,
John Boudjarane
,
Chantal Missirian
,
Nora Chelloug
,
Annick Toutain
,
Jean Chiésa
,
Boris Keren
,
Cyril Mignot
,
Evan Gouy
,
Sylvie Jaillard
,
Emilie Landais
,
Céline Poirsier
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63531
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63531
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.
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Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.a.63531
- OA Status
- green
- Cited By
- 1
- References
- 48
- Related Works
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- OpenAlex ID
- https://openalex.org/W4392294335
All OpenAlex metadata
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- OpenAlex ID
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https://openalex.org/W4392294335Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/ajmg.a.63531Digital Object Identifier
- Title
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3q29 duplications: A cohort of 46 patients and a literature reviewWork title
- Type
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reviewOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-02-29Full publication date if available
- Authors
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Marie Massier, Martine Doco‐Fenzy, Matthieu Egloff, Xavier Le Guillou, Gwenaël Le Guyader, Sylvia Redon, Caroline Bénech, K. Le Millier, Kévin Uguen, Juliette Ropars, Elise Sacaze, Séverine Audebert‐Bellanger, Andreea Apetrei, Arnaud Molin, Nicolas Gruchy, Aline Vincent‐Devulder, Marta Spodenkiewicz, Clémence Jacquin, Gauthier Loron, Marie Thibaud, Geoffroy Delplancq, Sophie Brisset, Marion Lesieur‐Sebellin, Valérie Malan, Serge Romana, Marlène Rio, Sandrine Marlin, Jeanne Amiel, Valentine Marquet, Benjamin Dauriat, Kamran Moradkhani, Sandra Mercier, Bertrand Isidor, Stéphanie Arpin, Mathilde Pujalte, Guillaume Jedraszak, Céline Pebrel‐Richard, Gaëlle Salaün, Fanny Laffargue, John Boudjarane, Chantal Missirian, Nora Chelloug, Annick Toutain, Jean Chiésa, Boris Keren, Cyril Mignot, Evan Gouy, Sylvie Jaillard, Emilie Landais, Céline PoirsierList of authors in order
- Landing page
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https://doi.org/10.1002/ajmg.a.63531Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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greenOpen access status per OpenAlex
- OA URL
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https://hal.science/hal-04488411Direct OA link when available
- Concepts
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Gene duplication, Phenotype, Genetics, Cohort, Copy-number variation, Biology, Medicine, Pathology, Gene, GenomeTop concepts (fields/topics) attached by OpenAlex
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1Total citation count in OpenAlex
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2024: 1Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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