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

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

doi:10.1002/humu.21130

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

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

62 Citations (Web of Science)

Abstract

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 The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations.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

Original language	English
Pages (from-to)	E1043-E1051
Journal	Human Mutation
Volume	31
Issue number	1
DOIs	https://doi.org/10.1002/humu.21130
Publication status	Published - Jan 2010

Keywords

Folliculin
FLCN
Birt-Hogg-Dube syndrome
Renal cancer
Spontaneous Pneumothorax
Mutation Database

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10.1002/humu.21130

Cite this

@article{8dfa6c7d7ecc445cbd98c3fd744f3350,

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

abstract = "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 ",

keywords = "Folliculin, FLCN, Birt-Hogg-Dube syndrome, Renal cancer, Spontaneous Pneumothorax, Mutation Database",

author = "Lim, {Derek H. K.} and Rehal, {Pauline K.} and Nahorski, {Michael S.} and Fiona Macdonald and Tijs Claessens and {Van Geel}, Michel and Lieke Gijezen and Gille, {Johan J. P.} and Sophie Giraud and Stephane Richard and {van Steensel}, Maurice and Menko, {Fred H.} and Maher, {Eamonn R.}",

year = "2010",

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doi = "10.1002/humu.21130",

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T1 - A New Locus-Specific Database (LSDB) for Mutations in the Folliculin (FLCN) Gene

AU - Lim, Derek H. K.

AU - Rehal, Pauline K.

AU - Nahorski, Michael S.

AU - Macdonald, Fiona

AU - Claessens, Tijs

AU - Van Geel, Michel

AU - Gijezen, Lieke

AU - Gille, Johan J. P.

AU - Giraud, Sophie

AU - Richard, Stephane

AU - van Steensel, Maurice

AU - Menko, Fred H.

AU - Maher, Eamonn R.

PY - 2010/1

Y1 - 2010/1

N2 - 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

AB - 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

KW - Folliculin

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KW - Birt-Hogg-Dube syndrome

KW - Renal cancer

KW - Spontaneous Pneumothorax

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DO - 10.1002/humu.21130

M3 - Article

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VL - 31

SP - E1043-E1051

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