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IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科  > 期刊论文
学科主题: 临床医学
题名:
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome
作者: 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
发表日期: 2005-09-01
DOI: 10.1080/00015550510037684
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52237
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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作者单位: Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China

Recommended Citation:
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.
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