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学科主题: 临床医学
题名:
Genotype-Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa
作者: Jiang, Wei1; Sun, Ting-ting1; Lei, Peng-cheng1; Zhu, Xue-jun2
关键词: dystrophic epidermolysis bullosa pruriginosa ; genotype-phenotype correlation ; Chinese patients
刊名: ACTA DERMATO-VENEREOLOGICA
发表日期: 2012
DOI: 10.2340/00015555-1178
卷: 92, 期:1, 页:50-53
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]: GLYCINE SUBSTITUTION MUTATIONS ; VII COLLAGEN ; MISSENSE MUTATION ; SEQUENCE VARIANTS ; COL7A1 ; GENE ; DOMINANT ; HETEROGENEITY ; FAMILY
英文摘要:

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare variant of dystrophic epidermolysis bullosa (DEB) due to dominant or recessive mutations in the COL7A1 gene. More than 40 mutations in COL7A1 have been described in DEB-Pr. The aim of this study was to understand the genotype phenotype correlation in Chinese patients with DEB-Pr. Three Chinese families with typical clinical features of DEB-Pr were studied. The results were analysed in association with the eight Chinese DEB-Pr patients reported in the literature. In the three Chinese families with DEB-Pr, we found two dominant cases with G1773R and c.6900+1G>C mutations, and one case with heterozygous G2701W mutation of uncertain inheritance mode. In the 10 Chinese patients with dominant type of DEB-Pr, 7 glycine substitutions and three splicing site mutations of exon 87 skipping were identified. Glycine substitution mutations in the triple helix region and exon 87 skipping, leading to the in-frame deletion of 23 amino acid residues in the triple-helix, are often seen in Chinese patients with dominant DEB-Pr, although the glycine substitutions are also frequently present in dominant DEB.

语种: 英语
WOS记录号: WOS:000300388400010
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/58227
Appears in Collections:北京大学第三临床医学院_皮肤科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Beijing 100871, Peoples R China
2.Peking Univ, Dept Dermatol, Hosp 3, Beijing 100871, Peoples R China

Recommended Citation:
Jiang, Wei,Sun, Ting-ting,Lei, Peng-cheng,et al. Genotype-Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa[J]. ACTA DERMATO-VENEREOLOGICA,2012,92(1):50-53.
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