Variation of COL7A1 gene in dystrophic epidermolysis bullosa pruriginosa / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 518-521, 2022.
Article
in Zh
| WPRIM
| ID: wpr-928449
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To perform gene mutation analysis in a Chinese pedigree with dystrophic epidermolysis bullosa pruriginosa (DEB-Pr), and explore phetotype, genotype, and genotypes-phenotypes relationship of DEB-Pr.@*METHODS@#Potential variants of the COL7A1 gene were detected by skin targeted sequencing panel and verified by Sanger sequencing. The pathogenicity of the variation was analyzed.@*RESULTS@#Compound heterozygous variants, c.4128delT and c.8234G>A, were detected in the COL7A1 gene of the two patients. The c.4128delT(p.Pro1376fs) variant was derived from their mother and unreported previously. According to the American College of Medical Genetics and Genomics Standards and Guidelines, it was suggested to be a pathogenic mutation. The c.8234G>A(p.Arg2745Gln) variant was derived from their father, and possibly is a pathogenic variation.@*CONCLUSION@#In this study, the compound heterozygous variants of c.4128delT(p.Pro1376fs) and c.8234G>A(p.Arg2745Gln) of the COL7A1 gene probably underlies the disease in this patient and his sister. And our study expands the database on mutations of DEB-Pr.
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Phenotype
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Epidermolysis Bullosa Dystrophica
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Collagen Type VII
/
Mutation
Limits:
Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article