Further evidence for distinct traits associated with RBM10 missense variants

Clin Genet. 2022 Aug;102(2):161-163. doi: 10.1111/cge.14163. Epub 2022 May 29.

Authors

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

Abstract

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

© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Adult
Humans
Intellectual Disability*
Mutation, Missense* / genetics
Phenotype
RNA-Binding Proteins / genetics

Substances

RBM10 protein, human
RNA-Binding Proteins