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

Christiano, Angela M.; LaForgia, Sal; Paller, Amy S.; McGuire, Joseph; Shimizu, Hiroshi; Uitto, Jouni

doi:10.1007/BF03402203

Molecular Medicine

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 CVS^a	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	Affected^b	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

^aCVS, chorionic villus sampling.
^bfetal skin biopsy performed.

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ISSN: 1528-3658

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