title: [Transient bullous lesions - a case of de novo mutation in the COL7A1 gene in patient with Epidermolysis bullosa dystrophica].
abstract: OBJECTIVE
  The aim of the study was the evaluation of clinical symptoms suggesting Epidermolysis bullosa dystrophica in a 5 years old boy and identification of an underlying molecular defect.
  
  
  METHODS
  The patient was a 5 years old boy with the history of transient bullae and milla formation in the fi rst three years of life In the last two years such tendency has not been observed, with the exception of dystrophic toenails. The family history of bullous diseases is negative. Molecular analysis was performed using direct sequencing of COL7A1 gene encoding collagen type VII.
  
  
  RESULTS
  A novel mutation p.Gly2064_Arg2069del was identified in the patient. The identified mutation does not appear in the patient's parents nor in the patient's brother. Molecular analysis in the family members revealed that the mutation occurred de novo. Biparental inheritance of genetic material for chosen genetic markers was confirmed.
  
  
  CONCLUSIONS
  On the basis of clinical features observed, results of molecular studies and literature data, diagnosis of mild dominant Epidermolysis bullosa dystrophica can be established in the index case.
authors: Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa. agnieszka.sobczynska@imid.med.pl
authors: Agnieszka
authors: A
authors: Sobczyńska-Tomaszewska
authors: Katarzyna
authors: K
authors: Wertheim-Tysarowska
authors: Ewa
authors: E
authors: Kosykowska
authors: Cezary
authors: C
authors: Kowalewski
mesh_terms: D001483:Base Sequence; D001768:Blister / Q000235:genetics; D002675:Child, Preschool; D024143:Collagen Type VII / Q000737:chemistry / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII