TY - JOUR
T1 - Birt-Hogg-Dubé (BHD) syndrome
T2 - Report of two novel germline mutations in the folliculin (FLCN) gene
AU - Palmirotta, Raffaele
AU - Donati, Pietro
AU - Savonarola, Annalisa
AU - Cota, Carlo
AU - Ferroni, Patrizia
AU - Guadagni, Fiorella
PY - 2008/7
Y1 - 2008/7
N2 - 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.
AB - 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.
KW - Birt-Hogg-Dubé syndrome
KW - Cancer predisposition
KW - Molecular analysis
KW - Mutation
KW - Sequence variants
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U2 - 10.1684/ejd.2008.0431
DO - 10.1684/ejd.2008.0431
M3 - Article
C2 - 18573707
AN - SCOPUS:47749095900
VL - 18
SP - 382
EP - 386
JO - European Journal of Dermatology
JF - European Journal of Dermatology
SN - 1167-1122
IS - 4
ER -