Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 20, Issue 6, Pages 618-625Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2011.275
Keywords
orbital neurofibroma; plexiform neurofibroma; enlarged corneal nerves; marfanoid habitus
Funding
- Fonds voor Wetenschappelijk Onderzoek (FWO)-Vlaanderen [G.0578.06]
- KULeuven [GOA/11/010]
- FWO scientific research community [W0.027.09]
- Federal Office for Scientific, Technical and Cultural Affairs, Belgium [2007-2011
- P5/25]
- Institute for the Promotion of Innovation through Science and Technology in Flanders (IWT-Vlaanderen)
- NF Inc., MN, USA
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Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited a marfanoid habitus, shared similar facial features, and had enlarged corneal nerves as well as neuronal migration defects. Comprehensive NF1, NF2 and SMARCB1 mutation analyses revealed no mutation in blood lymphocytes and in schwann cells cultured from plexiform neurofibromas. Furthermore, no mutations in RET, PRKAR1A, PTEN and other RAS-pathway genes were found in blood leukocytes. Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder. European Journal of Human Genetics (2012) 20, 618-625; doi:10.1038/ejhg.2011.275; published online 18 January 2012
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