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

Research output: Contribution to journalArticle

Authors

  • PK Rehal
  • Michael Nahorski
  • Fiona MacDonald
  • T Claessens
  • M Van Geel
  • L Gijezen
  • JJP Gille
  • S Giraud
  • S Richard
  • M van Steensel
  • FH Menko

Colleges, School and Institutes

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 The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations.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 (C) 2009 Wiley-Liss, Inc.

Details

Original languageEnglish
Pages (from-to)E1043-E1051
JournalHuman Mutation
Volume31
Issue number1
Publication statusPublished - 1 Jan 2010

Keywords

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