title: Somatic mosaicism for deletion of the entire NF1 gene identified by FISH.
abstract: We report a young child with a large congenital cervical plexiform neurofibroma and multiple café-aul-ait spots in a generalized distribution who has mosaicism for complete deletion of the NF1 gene. The deletion was demonstrated with intragenic cosmid probes as well as YACs spanning a 700-kb contig including NF1, by two-color FISH with an NF1 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 NF1 gene. The child did not have typical NF1 or display segmental features of NF1.
authors.affiliation: Division of Genetics, Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
authors.forename: B L
authors.initials: BL
authors.lastname: Wu
authors.forename: R G
authors.initials: RG
authors.lastname: Boles
authors.forename: H
authors.initials: H
authors.lastname: Yaari
authors.forename: S
authors.initials: S
authors.lastname: Weremowicz
authors.forename: G H
authors.initials: GH
authors.lastname: Schneider
authors.forename: B R
authors.initials: BR
authors.lastname: Korf
mesh_terms: D002478:Cells, Cultured; D018244:Chromosomes, Artificial, Yeast; D003360:Cosmids; D005260:Female; D017353:Gene Deletion; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009030:Mosaicism; D009455:Neurofibroma / Q000235:genetics*; D025542:Neurofibromin 1; D011506:Proteins / Q000235:genetics*
chemical_list: D025542:Neurofibromin 1; D011506:Proteins