Novel Biallelic Synonymous Exonic Variant in <i>VPS13A</i> Affecting mRNA Splicing
The variant is reclassified as likely pathogenic based on the American College of Medical Genetics criteria. This is the first reported case of ChAc caused by a synonymous variant in <i>VPS13A</i> proven to affect splicing. Our report further expands the spectrum of variants known to cause ChAc.
Authors
- Helen L. Ong (ORCID: https://orcid.org/0000-0002-9472-7969)
- Kevin Peikert (ORCID: https://orcid.org/0000-0002-0845-2453)
- Shermyn Neo (ORCID: https://orcid.org/0000-0002-3362-2717)
- Rebecca Hui Min Hoe (ORCID: https://orcid.org/0000-0003-3002-6677)
- Bingwen Eugene Fan (ORCID: https://orcid.org/0000-0003-4367-5182)
- Nigel CK Tan (ORCID: https://orcid.org/0000-0002-9213-5572)
- Andreas Hermann (ORCID: https://orcid.org/0000-0002-7364-7791)
- Zhiyong Chen (ORCID: https://orcid.org/0000-0002-3086-8631)
- Yi Zhao (ORCID: https://orcid.org/0000-0002-3839-6499)
- Karine Su Shan Tay
- Mikaelea Jia Yi Khor
Institutions
- Tan Tock Seng Hospital (SG)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-11-20
- DOI
- https://doi.org/10.1212/nxg.0000000000200207
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00