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A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

✍ Scribed by 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

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
285 KB
Volume
31
Category
Article
ISSN
1059-7794

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✦ Synopsis

Birt-Hogg-Dubé 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 The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations.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%).

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