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

doi:10.1111/cge.70219

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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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Humans Child Male Germ-Line Mutation Neurofibromin 1 Exome Sequencing Optic Nerve Glioma Genetic Predisposition to Disease Pedigree RNA Splice Sites ELP1 cancer predisposition germline variant incomplete penetrance optic pathway glioma pediatric glioma splice‐acceptor variant Journal Article Case 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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