Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17

Abstract

Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.

Malignant Schwannoma of the Sciatic Nerve Originating in a Spinal Plexiform Neurofibroma Associated With Neurofibromatosis Type 1. Case Report.

“…8,34) Some transformations occur after radiotherapy 10,11,31,32,36,37) or previous surgery for a benign neurofibroma. The pleiotropic effect of the NF allele on chromosome 17 4,22) is responsible for increasing the risk for both neural crest and nonneural crest malignancies. 1,3,5,7,16,18,22,25,32) Development of malignant schwannoma from neurofibroma is associated with inactivation of the both NF1 (tumor suppressor gene) alleles, and by partial inactivation of the other tumor suppressor gene p53 located elsewhere on the centromere of chromosome 17.…”

“…1,3,5,7,16,18,22,25,32) Development of malignant schwannoma from neurofibroma is associated with inactivation of the both NF1 (tumor suppressor gene) alleles, and by partial inactivation of the other tumor suppressor gene p53 located elsewhere on the centromere of chromosome 17. 4,17) Neurofibromas increase in size under the control of the sex steroids in both sexes, directly or through mediation by nerve growth factor (NGF), 23) whose receptor is located on the distal arm of chromosome 17. 28) The onset of malignant schwannoma may be attributable to the abnormal and continuous stimulation of nerve cells sensitive to NGF.…”

Neurofibromatose tipo 1: mais comum e grave do que se imagina

“…Ela acomete igualmente ambos os sexos e é herdada de forma autossômica dominante com penetrância completa. O gene se localiza no cromossomo 17 8 . No entanto, a expressão fenotípica é extremamente variada, inclusive na mesma família, e até mesmo entre gêmeos univitelinos.…”

Health Supervision for Children With Neurofibromatosis

“…[39][40][41] Neurofibromin, the protein product of the normal gene, acts as a tumor suppressor by downregulating another cell protein, Ras, that enhances cell growth and proliferation. 12,42,43 A wide variety of mutations have been identified within the NF1 gene, which give rise to diminished function of neurofibromin in affected persons.…”