A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: Report of a Chinese family with intra-familial phenotypical diversity |
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| Authors: | Yan-Hui Liu Xuan Shang Zhe-Tao Li Ya-Min Wu Li-fen Li Xiang-Min Xu |
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| Affiliation: | 1. Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, People''s Republic of China;2. Prenatal Diagnosis Center, Maternal and Child Health Hospital, Dongguan, Guangdong, People''s Republic of China;3. The Center for Medical Laboratory Science, Tung Wha Hospital, Dongguan, Guangdong, People''s Republic of China |
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| 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. |
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| Keywords: | PEB, Pretibial epidermolysis bullosa DDEB, dystrophic epidermolysis bullosa DEB, Dystrophic epidermolysis bullosa RDEB, Recessive dystrophic epidermolysis bullosa AD, Autosomal dominant DHPLC, denaturing high-performance liquid chromatography |
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