A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
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 The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations.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%). The database is accessible online at http://www.lovd.nl/flcn.
Lim
Derek H K
DH
Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham B15 2TT, UK.
Rehal
Pauline K
PK
Nahorski
Michael S
MS
Macdonald
Fiona
F
Claessens
Tijs
T
Van Geel
Michel
M
Gijezen
Lieke
L
Gille
Johan J P
JJ
Giraud
Sophie
S
Richard
Stephane
S
van Steensel
Maurice
M
Menko
Fred H
FH
Maher
Eamonn R
ER
D030541:Databases, Genetic; D005091:Exons / Q000235:genetics*; D018859:Hair Follicle / Q000473:pathology; D006801:Humans; D020407:Internet; D007438:Introns / Q000235:genetics*; D007680:Kidney Neoplasms / Q000235:genetics; D009154:Mutation; D011030:Pneumothorax / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins