IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome
Zheng, R(); Bu, DF(); Zhu, XJ()
关键词Ectodermal Dysplasia-skin Fragility Syndrome Skin Fragility Plakophilin 1 Mutation Compound Heterozygosity
刊名ACTA DERMATO-VENEREOLOGICA
2005-09-01
DOI10.1080/00015550510037684
85期:5页:394-399
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
研究领域[WOS]Dermatology
关键词[WOS]STRIATE PALMOPLANTAR KERATODERMA ; MESSENGER-RNA DECAY ; DESMOSOMES ; PROTEIN ; DISEASE ; TISSUE ; CELLS
英文摘要

Ectodermal dysplasia-skin fragility syndrome is a rare autosomal recessive inherited disease characterized by skin fragility, nail dystrophy and hyperkeratosis of palms and soles. Skin biopsy shows the loss of cell adhesion and the decrease of desmosomes in number and size. Mutations in PKP1 have been found to be the underlying cause of the syndrome. We report here a Chinese case of ectodermal dysplasia-skin fragility syndrome. Mutation analysis revealed compound heterozygosity for mutations in PKP1 of the proband. A new splice site mutation (c. 1053 T>A+c. 1054+1 G>T) near the 3′ end of exon 5 and at the donor end of intron 5 on one allele was transmitted from the proband′s mother. Another new splice site mutation ( c. 1835-2 A>G) near the acceptor end of intron 10 originated from her father. The absence of the mutant mRNA and plakophilin 1 protein in the proband′s skin may result from the mechanism of nonsense-mediated mRNA decay induced by premature stop codons in PKP1 transcripts due to the two splice site mutations.

语种英语
WOS记录号WOS:000231813200003
引用统计
被引频次:15[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52237
专题北京大学第一临床医学院_皮肤性病科
作者单位Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Zheng, R,Bu, DF,Zhu, XJ. Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome[J]. ACTA DERMATO-VENEREOLOGICA,2005,85(5):394-399.
APA Zheng, R,Bu, DF,&Zhu, XJ.(2005).Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.ACTA DERMATO-VENEREOLOGICA,85(5),394-399.
MLA Zheng, R,et al."Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome".ACTA DERMATO-VENEREOLOGICA 85.5(2005):394-399.
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