title: Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
abstract: 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.
authors: Department of Dermatology, Peking University Third Hospital, Beijing, China. jiangwei@medmail.com.cn
authors: Wei
authors: W
authors: Jiang
authors: Ting-ting
authors: TT
authors: Sun
authors: Peng-cheng
authors: PC
authors: Lei
authors: Xue-jun
authors: XJ
authors: Zhu
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002648:Child; D002681:China; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications / Q000235:genetics*; D005091:Exons; D005260:Female; D005838:Genotype; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011536:Prurigo / Q000150:complications / Q000235:genetics*; D022821:RNA Splice Sites; D012333:RNA, Messenger / Q000235:genetics*; D055815:Young Adult
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII; D022821:RNA Splice Sites; D012333:RNA, Messenger; D005998:Glycine