title: A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.
abstract: Pretibial epidermolysis bullosa (PEB) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB) caused by mutation of the COL7A1 gene. More than 730 mutations have been identified in patients with DDEB, but only five mutations have been found to be related to PEB. In this study, a novel heterozygous nucleotide G>T transition at position 6101 in exon 73 of COL7A1 was detected, which resulted in a glycine to valine substitution (G2034V) in the triple-helical domain of type-VII collagen. This is the first report to show that one mutation caused a broad range of severity of disease in one family with PEB. These data suggest that c.6101G>T may influence the phenotype of PEB. They also contribute to the expanding database on COL7A1 mutations.
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, People's Republic of China.
authors.forename: Yan-Hui
authors.initials: YH
authors.lastname: Liu
authors.forename: Xuan
authors.initials: X
authors.lastname: Shang
authors.forename: Zhe-Tao
authors.initials: ZT
authors.lastname: Li
authors.forename: Ya-Min
authors.initials: YM
authors.lastname: Wu
authors.forename: Li-Fen
authors.initials: LF
authors.lastname: Li
authors.forename: Xiang-Min
authors.initials: XM
authors.lastname: Xu
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D002648:Child; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII