患Birt-Hogg-Dubé综合征一亚洲家族1733插入C位点突变检测  

Detection of 1733insC mutations in an Asian family with Birt- Hogg- Dubé syndrome

作　　者：Kawasaki H. Sawamura D. Nakazawa H. 党倩丽 

机构地区：[1]Dr.Department of Dermatology, Hokkaido Univ. Grad. Sch. of Med., North 15 West 7, Kita- ku, Sapporo 060- 8638, Japan

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2005年第8期15-16,共2页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：Background: Birt- Hogg- Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis characterized by skin tumours, including multiple fibrofolliculomas, trichodiscomas and acrochordons. BHD patients also may suffer from associated renal and colonic carcinomas. The defective gene in BHD has been recently identified and is suspected of being a tumour suppressor gene. Several mutations of the BHD gene have been reported only in Caucasian patients. Objectives: This study reports the first Asian family that has been demonstrated to carry a BHD mutation. Patients/methods: The proband was a 26- year- old Japanese man with multiple asymptomatic, soft skin- coloured papules on his face, neck and trunk, which were clinically thought to be acrochordon. His father was also affected. Histopathologically, the papules revealed a fibrofolliculoma that had a circumscribed proliferation of fibroblasts and collagen fibres surrounding an abnormal hair follicle. Results: Mutational analysis of the BHD gene of the proband and the father detected 1733insC, a cytosine insertion mutation in an eight- cytosine tract (nucleotides 1733- 1740) in exon 11. Analysis of fibrofolliculoma in the proband showed heterozygous 1733insC mutation, suggesting the absence of loss of heterozygosity. Interestingly, previous mutational analysis in Caucasian patients revealed that both1733insC and 1733delC mutations were hot spots. Conclusions: This study is the first to find the same hot- spot 1733insC mutation in Asian kindred. The mutations in this polycytosine tract may have a wide, global distribution despite their arising from a different ethnic background.Background: Birt- Hogg- Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis characterized by skin tumours, including multiple fibrofolliculomas, trichodiscomas and acrochordons. BHD patients also may suffer from associated renal and colonic carcinomas. The defective gene in BHD has been recently identified and is suspected of being a tumour suppressor gene. Several mutations of the BHD gene have been reported only in Caucasian patients. Objectives: This study reports the first Asian family that has been demonstrated to carry a BHD mutation. Patients/methods: The proband was a 26- year- old Japanese man with multiple asymptomatic, soft skin- coloured papules on his face, neck and trunk, which were clinically thought to be acrochordon. His father was also affected. Histopathologically, the papules revealed a fibrofolliculoma that had a circumscribed proliferation of fibroblasts and collagen fibres surrounding an abnormal hair follicle. Results: Mutational analysis of the BHD gene of the proband and the father detected 1733insC, a cytosine insertion mutation in an eight- cytosine tract (nucleotides 1733- 1740) in exon 11. Analysis of fibrofolliculoma in the proband showed heterozygous 1733insC mutation, suggesting the absence of loss of heterozygosity. Interestingly, previous mutational analysis in Caucasian patients revealed that both1733insC and 1733delC mutations were hot spots. Conclusions: This study is the first to find the same hot- spot 1733insC mutation in Asian kindred. The mutations in this polycytosine tract may have a wide, global distribution despite their arising from a different ethnic background.

关 键 词：位点突变 Birt-Hogg-Dub 纤维毛囊瘤 软垂疣 毛盘状瘤 皮肤肿瘤 基因突变分析 缺陷基因 先证者 胞嘧啶 

分 类 号：R739.5[医药卫生—肿瘤]