Further evidence for distinct traits associated with RBM10 missense variants.
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:
11
05
2022
received:
19
02
2022
accepted:
13
05
2022
pubmed:
2
6
2022
medline:
9
7
2022
entrez:
1
6
2022
Statut:
ppublish
Résumé
A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability.
Substances chimiques
RBM10 protein, human
0
RNA-Binding Proteins
0
Types de publication
Case Reports
Letter
Research Support, Non-U.S. Gov't
Comment
Langues
eng
Sous-ensembles de citation
IM
Pagination
161-163Commentaires et corrections
Type : CommentOn
Type : CommentOn
Informations de copyright
© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Imagawa E, Konuma T, Cork EE, Diaz GA, Oishi K. A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features. Clin Genet. 2020;98:606-612. doi:10.1111/cge.13835
Kumps C, D'haenens E, Vergult S, et al. Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. Clin Genet. 2021;99:449-456. doi:10.1111/cge.13901
Baynam G, Broley S, Bauskis A, et al. Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet J Rare Dis. 2017;12:83. doi:10.1186/s13023-017-0619-z
Inoue A. RBM10: structure, functions, and associated diseases. Gene. 2021;783:145463. doi:10.1016/j.gene.2021.145463
Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581:434-443. doi:10.1038/s41586-020-2308-7