Further evidence for distinct traits associated with RBM10 missense variants

Cathryn Poulton^{1

2}, Gareth Baynam^{1

2

3

4

5

6}, Kye Pugh⁷, Michael Mason⁸, Catherine Kiraly-Borri², Dylan Gration², Lauren Dreyer², Leon Viti⁷, Mark Agostino^{7

9}, Julian Ik-Tsen Heng⁷

Affiliations

¹ Western Australian Register of Developmental Anomalies, Perth, Australia.
² Genetic Services of WA, Government of Western Australia, Perth, Australia.
³ Faculty of Health and Medicine, University of Western Australia, Perth, Australia.
⁴ Telethon Kids Institute, Perth, Australia.
⁵ Faculty of Medicine, University of Notre Dame, Fremantle, Australia.
⁶ Faculty of Science and Engineering, Curtin University, Perth, Australia.
⁷ Curtin Medical School, Curtin University, Bentley, Australia.
⁸ Perth Children's Hospital, Perth, Western Australia.
⁹ Curtin Institute for Computation, Bentley, Australia.

PMID: 35645043
DOI: 10.1111/cge.14163

Case Reports

Further evidence for distinct traits associated with RBM10 missense variants

Cathryn Poulton et al. Clin Genet. 2022 Aug.

. 2022 Aug;102(2):161-163.

doi: 10.1111/cge.14163. Epub 2022 May 29.

Authors

Affiliations

¹ Western Australian Register of Developmental Anomalies, Perth, Australia.
² Genetic Services of WA, Government of Western Australia, Perth, Australia.
³ Faculty of Health and Medicine, University of Western Australia, Perth, Australia.
⁴ Telethon Kids Institute, Perth, Australia.
⁵ Faculty of Medicine, University of Notre Dame, Fremantle, Australia.
⁶ Faculty of Science and Engineering, Curtin University, Perth, Australia.
⁷ Curtin Medical School, Curtin University, Bentley, Australia.
⁸ Perth Children's Hospital, Perth, Western Australia.
⁹ Curtin Institute for Computation, Bentley, Australia.

PMID: 35645043
DOI: 10.1111/cge.14163

Abstract

A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability.

PubMed Disclaimer

Comment on

A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
Imagawa E, Konuma T, Cork EE, Diaz GA, Oishi K. Imagawa E, et al. Clin Genet. 2020 Dec;98(6):606-612. doi: 10.1111/cge.13835. Epub 2020 Sep 2. Clin Genet. 2020. PMID: 32812661
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Kumps C, D'haenens E, Vergult S, Leus J, van Coster R, Jansen A, Devriendt K, Oostra A, Vanakker OM. Kumps C, et al. Clin Genet. 2021 Mar;99(3):449-456. doi: 10.1111/cge.13901. Epub 2021 Jan 5. Clin Genet. 2021. PMID: 33340101

References

REFERENCES

1. 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
1. 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
1. 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
1. Inoue A. RBM10: structure, functions, and associated diseases. Gene. 2021;783:145463. doi:10.1016/j.gene.2021.145463
1. 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

Publication types

Actions
Actions
Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions

LinkOut - more resources

Full Text Sources
- Ovid Technologies, Inc.
- Wiley

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Further evidence for distinct traits associated with RBM10 missense variants

Affiliations

Further evidence for distinct traits associated with RBM10 missense variants

Authors

Affiliations

Abstract

Comment on

References

REFERENCES

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources