Somatic mosaicism for deletion of the entire NFI gene identified by FISH

Academic Article


  • We report a young child with a large congenital cervical plexiform neurofibroma and multiple cafe-au-lait spots in a generalized distribution who has mosaicism for complete deletion of the NFI gene. The deletion was demonstrated with intragenic cosmid probes as well as YACs spanning a 700-kb contig including NFI, by two-color FISH with an NFI and a control probe. Using different intragenic probes, deletion was found in 77-84% of cultured peripheral blood lymphocytes but not in cultured skin fibroblasts. Neither parent has signs of neurofibromatosis type 1 (NF1) or a gene deletion. This is the first report of mosaicism for complete deletion of the NFI gene. The child did not have typical NF1 or display segmental features of NF1.
  • Published In

  • Human Genetics  Journal
  • Digital Object Identifier (doi)

    Author List

  • Wu BL; Boles RG; Yaari H; Weremowicz S; Schneider GH; Korf BR
  • Start Page

  • 209
  • End Page

  • 213
  • Volume

  • 99
  • Issue

  • 2