Conflicts of interest: None.
Article first published online: 27 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 9, pages 2290–2291, September 2012
How to Cite
Pasmant, E., Amiel, J., Rodriguez, D., Vidaud, M., Vidaud, D. and Parfait, B. (2012), Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family. Am. J. Med. Genet., 158A: 2290–2291. doi: 10.1002/ajmg.a.35496
How to Cite this Article: Pasmant E, Amiel J, Rodriguez D, Vidaud M, Vidaud, D, Parfait B. 2012. Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family. Am J Med Genet Part A. 158A:2290–2291.
- Issue published online: 24 AUG 2012
- Article first published online: 27 JUL 2012
- Manuscript Accepted: 6 MAY 2012
- Manuscript Received: 8 SEP 2011
- de novo mutation;
- Neurofibromatosis type 1;
- Noonan syndrome;
- paternal age effect
Here we report on a family with two siblings born to unrelated healthy parents, one with neurofibromatosis type 1 (NF1) and the other with Noonan syndrome (NS). Molecular investigations performed on the NF1 and PTPN11 genes showed two independent de novo mutations as a cause for NF1 in the NF1 proband and NS in her affected brother. Both de novo mutations were potentially of paternal origin, given the advanced paternal age at the time of conception. © 2012 Wiley Periodicals, Inc.