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 et al.
✦ AI-curated · Sources linked
Case in brief
A 7-year-old boy presented with an optic pathway glioma without neurofibromatosis type 1 (NF1). Whole-exome sequencing revealed a novel germline ELP1 splice-acceptor variant, classified as likely pathogenic. The variant was inherited from his asymptomatic father, highlighting the concept of incomplete penetrance in genetic conditions. The case contributes to the understanding of ELP1's role in glioma development.
Diagnostic / clinical pearl
Clinicians should consider the possibility of germline ELP1 variants in patients with gliomas, even in the absence of NF1.
Why it matters
This case underscores the importance of genetic testing in understanding the etiology of gliomas and the potential for incomplete penetrance in hereditary conditions.