Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 445-448, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-826559
ABSTRACT
OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for a family affected with recessive dystrophic epidermolysis bullosa (RDEB).@*METHODS@#All exons of the COL7A1 gene and their flanking regions were subjected to PCR and Sanger sequencing. Suspected variant was validated in family members, based on which prenatal diagnosis was provided.@*RESULTS@#Sanger sequencing found that the proband has carried two variants of the COL7A1 gene, namely c.7289delC (p.Pro2430Glnfs*36) and c.7474C>T (p.Arg2492*), which were respectively derived from his mother and father. The same variants were not found among 100 healthy controls. By prenatal diagnosis, the fetus was found to have inherited the c.7474C>T (p.Arg2492*) variant from its father.@*CONCLUSION@#The pathogenic variants of the COL7A1 gene of the RDEB family were clarified, based on which prenatal diagnosis was provided.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Genetic Testing
/
Exons
/
Epidermolysis Bullosa Dystrophica
/
Sequence Analysis, DNA
/
Collagen Type VII
/
Genes, Recessive
/
Genetics
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
Similar
MEDLINE
...
LILACS
LIS