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

[dystrophic epidermolysis bullosa]

Pretibial epidermolysis bullosa (PEB ) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB ) caused by mutation of the COL 7 A 1 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 COL 7 A 1 was detected , which resulted in a glycine to valine substitution (G 2034 V ) 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 .6101 G >T may influence the phenotype of PEB . They also contribute to the expanding database on COL 7 A 1 mutations .

Diseases
Validation

Diseases presenting "mutation of the col7a1 gene" symptom

dystrophic epidermolysis bullosa

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