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Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation.

Atbin Latifi·Sina Yousefian·Mohammad Ali Daneshmand·Mohamad R Akbari
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Abstract

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.

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HumansChildMaleGerm-Line MutationNeurofibromin 1Exome SequencingOptic Nerve GliomaGenetic Predisposition to DiseasePedigreeRNA Splice SitesELP1cancer predispositiongermline variantincomplete penetranceoptic pathway gliomapediatric gliomasplice‐acceptor variantJournal ArticleCase Reports

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Atbin Latifi, Sina Yousefian, Mohammad Ali Daneshmand, Mohamad R Akbari. 2026-07-23. Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation.. https://doi.org/10.1111/cge.70219

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