Birt-Hogg-Dubé (BHD) syndrome: Report of two novel germline mutations in the folliculin (FLCN) gene

Raffaele Palmirotta; Pietro Donati; Annalisa Savonarola; Carlo Cota; Patrizia Ferroni; Fiorella Guadagni

doi:10.1684/ejd.2008.0431

Birt-Hogg-Dubé (BHD) syndrome: Report of two novel germline mutations in the folliculin (FLCN) gene

Raffaele Palmirotta, Pietro Donati, Annalisa Savonarola, Carlo Cota, Patrizia Ferroni, Fiorella Guadagni

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

Abstract

Molecular analysis of the folliculin (FLCN) gene was performed in four consenting patients from two families with Birt-Hogg-Dubé (BHD) syndrome, showing the occurrence of two frameshift mutations located respectively in exons 5 (802insA) and 9 (1345delAAAG) of the FLCN gene. A novel homozygous sequence variant in the intron 9 (IVS9 +5C>T) was also found. 1345delAAAG was associated with a wide variety of tumors, including stomach, colon, breast and parotid cancer. Conversely, the family carrying 802insA only had clinical evidence of dermatological lesions. These findings further suggest the relevance of exon 9 mutations in cancer predisposition for BHD.

Original language	English
Pages (from-to)	382-386
Number of pages	5
Journal	European Journal of Dermatology
Volume	18
Issue number	4
DOIs	https://doi.org/10.1684/ejd.2008.0431
Publication status	Published - Jul 2008

Keywords

Birt-Hogg-Dubé syndrome
Cancer predisposition
Molecular analysis
Mutation
Sequence variants

ASJC Scopus subject areas

Dermatology

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title = "Birt-Hogg-Dub{\'e} (BHD) syndrome: Report of two novel germline mutations in the folliculin (FLCN) gene",

abstract = "Molecular analysis of the folliculin (FLCN) gene was performed in four consenting patients from two families with Birt-Hogg-Dub{\'e} (BHD) syndrome, showing the occurrence of two frameshift mutations located respectively in exons 5 (802insA) and 9 (1345delAAAG) of the FLCN gene. A novel homozygous sequence variant in the intron 9 (IVS9 +5C>T) was also found. 1345delAAAG was associated with a wide variety of tumors, including stomach, colon, breast and parotid cancer. Conversely, the family carrying 802insA only had clinical evidence of dermatological lesions. These findings further suggest the relevance of exon 9 mutations in cancer predisposition for BHD.",

keywords = "Birt-Hogg-Dub{\'e} syndrome, Cancer predisposition, Molecular analysis, Mutation, Sequence variants",

author = "Raffaele Palmirotta and Pietro Donati and Annalisa Savonarola and Carlo Cota and Patrizia Ferroni and Fiorella Guadagni",

year = "2008",

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AU - Palmirotta, Raffaele

AU - Donati, Pietro

AU - Savonarola, Annalisa

AU - Cota, Carlo

AU - Ferroni, Patrizia

AU - Guadagni, Fiorella

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