A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa.
BACKGROUND
Epidermolysis bullosa pruriginosa (DEB-Pr) is a rare disease caused by mutations in the collagen, type VII, alpha 1 (COL7A1) gene. Here, we identified a novel COL7A1 mutation in a Chinese family with DEB-Pr.


METHODS
Blood samples were obtained from 4 affected individuals of the 16-member family for isolation of genomic DNA. The COL7A1 exons were then amplified using PCR for direct sequencing. Two unaffected family members and 50 healthy controls were also enrolled for a comparison of genetic polymorphisms.


RESULTS
We identified a novel mutation, exon 110 c.8111G>A, P.Gly2704Glu (GGA>GAA), in all 4 affected individuals but not in the unaffected family members or healthy controls.


CONCLUSIONS
A glycine substitution specific to COL7A1, exon 110 c.8111G>A, P.Gly2704Glu (GGA>GAA), was identified in a Chinese family with DEB-Pr.
Ning
N
Wu
Liang
L
Jin
Gang
G
Wang
D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001706:Biopsy; D002681:China; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012867:Skin / Q000473:pathology; D055815:Young Adult
C569053:COL7A1 protein, human; D024143:Collagen Type VII