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 "broad range" symptom

acute rheumatic fever

congenital toxoplasmosis

cowden syndrome

cystinuria

dystrophic epidermolysis bullosa

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

kallmann syndrome

neuralgic amyotrophy

severe combined immunodeficiency

typhoid

waldenström macroglobulinemia

well-differentiated liposarcoma

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