How to Cite this Article: Kantaputra PN, van den Ouweland A, Sangruchi T, Limwongse C. 2012. Severe plexiform facial neurofibromatosis, Type 1 With underdeveloped eyes and a novel NF1 mutation. Am J Med Genet Part A. 158A:1750–1753.
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation†
Article first published online: 7 JUN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1750–1753, July 2012
How to Cite
Kantaputra, P. N., van den Ouweland, A., Sangruchi, T. and Limwongse, C. (2012), Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation. Am. J. Med. Genet., 158A: 1750–1753. doi: 10.1002/ajmg.a.35422
- Issue published online: 18 JUN 2012
- Article first published online: 7 JUN 2012
- Manuscript Accepted: 26 MAR 2012
- Manuscript Received: 15 JAN 2012
- Thailand Research fund (TRF)
- Faculty of Dentistry, Chiang Mai University
- small eyeglobes;
- gigantic eyelids;
A Thai woman, who was affected with neurofibromatosis type 1, was followed up and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers were also affected. The proposita was very severely affected. She was born blind with underdeveloped eyeglobes and had large plexiform neurofibromas on her face. Her eyelids were gigantic and tears drained from the orifice between them. Cutaneous neurofibromas were observed all over her body. A novel mutation c.4821delA was identified in NF1 gene, which predicted truncation of neurofibromin (p.Leu1607fs). © 2012 Wiley Periodicals, Inc.