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Table 4 Summary of results of ten cases of prenatal diagnosis of RDEB

From: Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)

Family Ethnic Origin Consanguinity Clinical Features of the Proband Electron Microscopic Findings Polymorphic Markers Mutation-Bearing Heteroduplex COL7A1 Mutation(s) in Proband Method of Sampling Genotypic Prediction Clinical Outcome
A Hispanic Bullae, scarring, pseudosyndactyly COL7Al/PvuII 13 week CVSa Carrier Healthy
B Afghani + Pseudosyndactyly, scarring, erosions, absence of nails Sublamina densa cleavage, lack of AF COL7Al/PvuII COL7A1/EX103-104 D3S2 COL7A1/E6 Q251X/Q251X 14 week amniocentesis Carrier Healthy
C Caucasian Extensive blistering with scarring, loss of nails Sublamina densa cleavage, lack of AF D3S1029 COL7Al/AluI COL7A1/E22-24 D3S2 D3S1076 COL7A1/E103–104 7729delC 10 week CVS Carrier Healthy
D German + Esophageal webbing, blistering, scarring, loss of nails D3S1029 D3S1235 COL7A1/PvuII D3S2 COL7A1/E13–15 R578X/R578X 14 week amniocentesis Carrier Healthy
E Hispanic Blistering erosions on trunk, groin, extremities, scarring, oncholysis Sublamina densa cleavage, lack of AF D3S1235 COL7A1/E74-76 D3S1076 COL7A1/E7–9 884delG 14 week amniocentesis Carrier Healthy
F Portugese/Canadian Multiple blisters, erosions, scarring, oral erosions Sublamina densa cleavage; few hypoplastic AF D3F15S2 COL7/PvuII D3S2 COL7A1/E96–97 COL7A1/E107–108 R2471X/G2653R 15 week amniocentesis Carrier Healthy
G Indian + Pseudosyndactyly erosions, scarring COL7Al/PvuII COL7A1/E18 W796X/W796X 15 week CVS Normal Healthy
H Caucasian Esophageal webbing, blistering, scarring, erosions Sublamina densa cleavage; few hypoplastic AF D3S1029
D3F15S2
COL7A1/E77–79 COL7A1/E107–108 6501G→A/G2674R 11 week amniocentesis Carrier Healthy
I Japanese Pseudosyndactyly, extensive blistering Sublamina densa cleavage, lack of AF D3S1029
D3S1235
D3S1573
D3S1076
COL7A1/E69–71 5818delC 16 week amniocentesis Affectedb Electively terminated
J German Extensive scarring, blistering, erosion, loss of nails, esophageal stricture D3F15S2
COL7Al/PvuII
COL7A1/E22-24 D3S2
COL7A1/E114–115 R2814X/R2814X 11 week CVS Normal Healthy
  1. aCVS, chorionic villus sampling.
  2. bfetal skin biopsy performed.