Rare Diseases Symptoms Automatic Extraction

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 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.

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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