A New Locus-Specific Database (LSDB) for Mutations in the Folliculin (FLCN) Gene
| Autor: | Derek Lim, Eamonn R. Maher, Stéphane Richard, Fiona Macdonald, Johan J.P. Gille, Pauline K. Rehal, Michel van Geel, Lieke Gijezen, Michael S. Nahorski, Tijs Claessens, Fred H. Menko, Sophie Giraud, Maurice A.M. van Steensel |
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| Přispěvatelé: | Human genetics, CCA - Oncogenesis, Promovendi ODB, Dermatologie, MUMC+: MA Dermatologie (9), RS: GROW - School for Oncology and Reproduction |
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Fibrofolliculoma
Mutation Database FLCN Locus (genetics) Biology computer.software_genre Birt–Hogg–Dubé syndrome Germline Spontaneous Pneumothorax Germline mutation Proto-Oncogene Proteins Databases Genetic Genetics medicine Humans Birt-Hogg-Dube syndrome Folliculin Gene Genetics (clinical) Internet Database Tumor Suppressor Proteins Pneumothorax Skin Diseases Genetic Exons Syndrome medicine.disease Introns Kidney Neoplasms Renal cancer Mutation computer Hair Follicle Clear cell |
| Zdroj: | Lim, D H K, Rehal, P K, Nahorski, M S, Macdonald, F, Claessens, T, Van Geel, M, Gijezen, L, Gille, J J P, Giraud, S, Richard, S, van Steensel, M, Menko, F H & Maher, E R 2010, ' A New Locus-Specific Database (LSDB) for Mutations in the Folliculin (FLCN) Gene ', Human Mutation, vol. 31, no. 1, pp. E1043-E1051 . https://doi.org/10.1002/humu.21130 Human Mutation, 31(1), E1043-E1051. Wiley-Liss Inc. Human Mutation, 31(1), E1043-E1051. Wiley |
| ISSN: | 1059-7794 |
| Popis: | 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 The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations.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. |
| Databáze: | OpenAIRE |
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