A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: Report of a Chinese family with intra-familial phenotypical diversity

• Published in: Gene 2013-07, Vol.524 (2), p.377-380
• Main Authors: Liu, Yan-Hui, Shang, Xuan, Li, Zhe-Tao, Wu, Ya-Min, Li, Li-fen, Xu, Xiang-Min
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Amino Acid Substitution; Asian Continental Ancestry Group - genetics; Child; COL7A1 gene; collagen; Collagen Type VII - genetics; disease severity; epidermolysis bullosa; Epidermolysis Bullosa Dystrophica - genetics; Exons; Female; genes; heterozygosity; Humans; Inheritance Patterns; Male; Middle Aged; Mutation; patients; Pedigree; Phenotype; Pretibial epidermolysis bullosa; Severity of Illness Index; valine; Young Adult
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2013.03.143

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. •A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa•We report a Chinese family with intra-familial phenotypical diversity.•The mutation contribute to the expanding database on COL7A1 mutations.