A New Locus-Specific Database (LSDB) for Mutations in the Folliculin (FLCN) Gene

Derek H. K. Lim, Pauline K. Rehal, Michael S. Nahorski, Fiona Macdonald, Tijs Claessens, Michel Van Geel, Lieke Gijezen, Johan J. P. Gille, Sophie Giraud, Stephane Richard, Maurice van Steensel, Fred H. Menko, Eamonn R. Maher*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterised by the presence of facial fibrofolliculomas, pulmonary cysts which may be associated with spontaneous pneumothorax and renal tumours. Germline mutations in the gene Folliculin (FLCN) were first identified in BHD patients in 2002. In addition FLCN mutations have also been described in families with isolated primary spontaneous pneumothorax (PSP) and also familial clear cell renal carcinomas (FcRCC). We have established a locus-specific database based on the Leiden Open (source) Variation Database (LOVD) software. The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations. The mutations are comprised of deletions (44.3%), substitutions (35.7%), duplications (14.3%) and deletion/insertions (5.7%). The database is accessible online at http://www.lovd.nl/flcn
Original languageEnglish
Pages (from-to)E1043-E1051
JournalHuman Mutation
Volume31
Issue number1
DOIs
Publication statusPublished - Jan 2010

Keywords

  • Folliculin
  • FLCN
  • Birt-Hogg-Dube syndrome
  • Renal cancer
  • Spontaneous Pneumothorax
  • Mutation Database

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