Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
JARID2
clinical genetics
intellectual disability
molecular diagnosis
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
revised:
20
04
2022
received:
13
02
2022
accepted:
05
05
2022
pubmed:
10
5
2022
medline:
9
7
2022
entrez:
9
5
2022
Statut:
ppublish
Résumé
Loss of function variants in JARID2 were recently reported in 16 patients with a neurodevelopmental disorder characterized by delays, intellectual and learning disability, autism, behavioral abnormalities, and dysmorphic features. Most cases were de novo, with only one variant inherited from an affected parent. Here, we present seven additional individuals from five families with pathogenic or likely pathogenic JARID2 variants, confirming this gene-disease association and highlighting palatal abnormalities and heart defects as part of the phenotype. In addition, we report inheritance of JARID2 variants from mildly affected parents, demonstrating the variable expressivity of the disease. We also note the high prevalence of intragenic JARID2 copy number variants, emphasizing the importance of exon-level analysis.
Substances chimiques
JARID2 protein, human
0
Polycomb Repressive Complex 2
EC 2.1.1.43
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
136-141Informations de copyright
© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
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