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 The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations.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.
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.
Derek H K
DH
Lim
Pauline K
PK
Rehal
Michael S
MS
Nahorski
Fiona
F
Macdonald
Tijs
T
Claessens
Michel
M
Van Geel
Lieke
L
Gijezen
Johan J P
JJ
Gille
Sophie
S
Giraud
Stephane
S
Richard
Maurice
M
van Steensel
Fred H
FH
Menko
Eamonn R
ER
Maher
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