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A new locus‐specific database (LSDB) for mutations in the folliculin ( FLCN ) gene
Author(s) -
Lim Derek H.K.,
Rehal Pauline K.,
Nahorski Michael S.,
Macdonald Fiona,
Claessens Tijs,
Van Geel Michel,
Gijezen Lieke,
Gille Johan J.P.,
Giraud Sophie,
Richard Stephane,
van Steensel Maurice,
Menko Fred H.,
Maher Eamonn R.
Publication year - 2010
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21130
Subject(s) - folliculin , birt–hogg–dubé syndrome , biology , germline , locus (genetics) , genetics , germline mutation , gene , mutation , pneumothorax , anatomy
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 The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations.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.