Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
Open Access
- 24 November 1994
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 331 (21) , 1403-1407
- https://doi.org/10.1056/nejm199411243312102
Abstract
The mutation rate of the neurofibromatosis type 1 (NF1) gene is one of the highest in the human genome, with about 50 percent of cases being due to new mutations. We describe a family in which neurofibromatosis type 1 occurred in two siblings with clinically normal parents, and we demonstrate germ-line mosaicism in the father.Keywords
This publication has 23 references indexed in Scilit:
- Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesisNature Genetics, 1993
- Neurofibromatosis type 1 gene mutations in neuroblastomaNature Genetics, 1993
- Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathwayNature, 1990
- The neurofibromatosis type 1 gene encodes a protein related to GAPCell, 1990
- Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 PatientsScience, 1990
- A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutationsPublished by Elsevier ,1990
- Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locusCell, 1990
- A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.Journal of Medical Genetics, 1989
- NeurofibromatosisArchives of Neurology, 1988
- On the mutation rate of neurofibromatosisHuman Genetics, 1975