Novel Germline <scp>ELP1</scp> Splice‐Acceptor Variant in <scp>NF1</scp> ‐Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With <scp>ELP1</scp> Variation
We report a 7-year-old boy with NF1-negative optic pathway glioma harboring a novel germline ELP1 splice-acceptor variant (NM_003640.5:c.2205-2A>G) identified by whole-exome sequencing. The variant was likely pathogenic (ACMG/AMP: PVS1, PM2) and inherited from an asymptomatic father, consistent with incomplete penetrance, expanding the limited evidence linking germline ELP1 variation to gliomas.
Authors
- Saeed Yousefian (ORCID: https://orcid.org/0009-0001-5046-5047)
- Mohammad Ali Daneshmand (ORCID: https://orcid.org/0000-0003-0142-1301)
- Arif Latifi (ORCID: https://orcid.org/0000-0003-2115-9910)
- Mohamad R. Akbari
Institutions
- Arak University of Medical Sciences (IR)
- Women's College Hospital (CA)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2026-07-23
- DOI
- https://doi.org/10.1111/cge.70219
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00