Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome

Clin Genet. 2023 Jul;104(1):136-138. doi: 10.1111/cge.14308. Epub 2023 Feb 21.

Abstract

Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. To date, a total of 16 patients with neurogenic tumors resembling neurofibromas/schwannomas and a molecularly confirmed diagnosis of a non-NF1 RASopathy have been reported, adding this further feature shared among RASopathies.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Mutation
  • Neurofibromatoses*
  • Neurofibromatosis 1* / complications
  • Neurofibromatosis 1* / diagnosis
  • Neurofibromatosis 1* / genetics
  • Noonan Syndrome* / diagnosis
  • Noonan Syndrome* / genetics
  • Proto-Oncogene Proteins p21(ras) / genetics
  • Spinal Nerve Roots / diagnostic imaging

Substances

  • Proto-Oncogene Proteins p21(ras)
  • KRAS protein, human