Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

Neurogenetics. 2011 Aug;12(3):233-40. doi: 10.1007/s10048-011-0278-5. Epub 2011 Mar 2.

Abstract

We report the detailed clinical presentation and molecular features of a spinal neurofibromatosis familial case where a 40-year-old woman, presenting with multiple bilateral spinal neurofibromas and no other clinical feature of neurofibromatosis type 1 (NF1), inherited a paternal large multiexonic deletion (c.5944-?_7126+?del) which resulted in NF1 gene haploinsufficiency at the RNA level. In the clinically unaffected 73-year-old father, spinal cord MRI disclosed bilateral and symmetrical hypertrophy of spinal lumbosacral roots. Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • Exons
  • Family
  • Female
  • Gene Deletion*
  • Genes, Neurofibromatosis 1*
  • Humans
  • Male
  • Neurofibromatoses / diagnosis
  • Neurofibromatoses / diagnostic imaging
  • Neurofibromatoses / genetics*
  • Neurofibromatoses / pathology
  • Pedigree
  • Radiography
  • Spinal Nerves / diagnostic imaging
  • Spinal Nerves / pathology*