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

被引：81

作者：

Lim, Derek H. K. ^{[1
,2
]}

Rehal, Pauline K. ^{[2
]}

Nahorski, Michael S. ^{[1
]}

Macdonald, Fiona ^{[2
]}

Claessens, Tijs ^{[3
,4
]}

Van Geel, Michel ^{[3
,4
]}

Gijezen, Lieke ^{[3
,4
]}

Gille, Johan J. P. ^{[9
]}

Giraud, Sophie ^{[5
]}

Richard, Stephane ^{[6
,7
,8
]}

van Steensel, Maurice ^{[3
,4
]}

Menko, Fred H. ^{[9
]}

Maher, Eamonn R. ^{[1
,2
]}

机构：

[1] Univ Birmingham, Coll Med & Dent Sci, Sch Clin & Expt Med, Dept Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

[2] Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham B15 2TG, W Midlands, England

[3] Univ Maastricht, Med Ctr, Dept Dermatol, Maastricht, Netherlands

[4] Univ Maastricht, GROW Res Sch Oncol & Dev Biol, Maastricht, Netherlands

[5] Hop Edouard Herriot, Lab Genet & Reseau Natl INCa, Lyon, France

[6] Fac Med Paris Sud, Genet Oncol EPHE CNRS, FRE 2939, Paris, France

[7] Hop Kremlin Bicetre, AP HP, Serv Urol, Reseau Natl INCa, Paris, France

[8] Hop Kremlin Bicetre, AP HP, Serv Urol, Ctr Pilote Tumeurs Rares INCa, Paris, France

[9] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

来源：

HUMAN MUTATION | 2010年 / 31卷 / 01期

关键词：

Folliculin; FLCN; Birt-Hogg-Dube syndrome; Renal cancer; Spontaneous Pneumothorax; Mutation Database; HOGG-DUBE-SYNDROME; RENAL-CELL CARCINOMA; SPONTANEOUS PNEUMOTHORAX; BHD GENE; KIDNEY NEOPLASIA; CLEAR-CELL; LUNG CYSTS; FAMILIES; TUMORS; FIBROFOLLICULOMAS;

D O I：

10.1002/humu.21130

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations.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.

引用

页码：E1043 / E1051

页数：9

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