A novel c.885+1G>A splicing variant in exon 9 of the NF2 gene shows a delayed mild presentation with a predilection for spinal ependymomas

A. Feria, A. Shoakazemi, Miriam J Smith, C Hammerbeck-Ward, S. A Rutherford, A. T. King, D Gareth Evans

Research output: Contribution to journalArticlepeer-review

Abstract

Neurofibromatosis Type 2 (NF2) is a rare autosomal dominant disease caused by pathological variants of the tumor suppressor gene NF2 classically manifesting as bilateral vestibular schwannoma, intracranial and spinal neoplasms such as meningioma and ependymoma, and posterior subcapsular and cortical wedge lens opacities, with an average onset of 18-24 years of age. Approximately 50% of patients inherit the disorder from an affected parent with the remainder resulting from de novo mutations or genetic mosaicism. The most common variants of NF2 are due to C>T transitions resulting in nonsense pathological variants. Individuals with splice-site variants of NF2 display varied phenotypes. Here we present a family with NF2 as the result of an apparently de novo c.885+1G>A splicing variant in exon 9 of the NF2 gene not previously described in the literature. This variant appears to be associated with an extremely mild phenotype with regards to vestibular schwannomas, other schwannoma disease and meningioma, instead exhibiting a delayed presentation with a predilection for ependymomas. The non-classical presentation of this NF2 splicing variant illustrates the importance of keeping NF2 in the differential diagnosis in patients with multiple spinal ependymomas with delayed onset and may warrant genetic testing for NF2 variants in such patients.
Original languageEnglish
JournalJ Surg Case Rep
DOIs
Publication statusPublished - 18 Apr 2019

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