Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation

Authors

  • Piranit Nik Kantaputra,

    Corresponding author
    1. Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University; DENTALAND CLINIC, Chiang Mai, Thailand
    • Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University; Dental and Clinic, Chiang Mai 50200, Thailand.
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  • Ans van den Ouweland,

    1. Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
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  • Tumtip Sangruchi,

    1. Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkoknoi, Bangkok, Thailand
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  • Chanin Limwongse

    1. Faculty of Medicine Siriraj Hospital, Division of Molecular Genetics, Department of Research and Development, Mahidol University, Bangkoknoi, Bangkok, Thailand
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  • 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.

Abstract

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.

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