Genetic diagnosis in two families with dystrophic epidermolysis bullosa
- VernacularTitle:两个营养不良型大疱性表皮松解症家系的基因诊断
- Author:
Li WANG
1
;
Zengguo REN
;
Guiyu LOU
;
Yuwei ZHANG
;
Ke YANG
;
Xingxing LEI
;
Bing ZHANG
;
Shixiu LIAO
;
Bingtao HAO
Author Information
- Keywords: Epidermolysis bullosa, junctional; DNA mutational analysis; Skin manifestations; Whole exome sequencing; COL7A1 gene
- From: Chinese Journal of Dermatology 2023;56(8):770-773
- CountryChina
- Language:Chinese
- Abstract: Objective:To analyze clinical characteristics of and causative genes in two families with dystrophic epidermolysis bullosa, and to reveal the pathogenesis of the disease and mechanisms underlying phenotypic differences between patients.Methods:DNA was extracted from peripheral blood samples of members from two families with dystrophic epidermolysis bullosa, and subjected to high-throughput sequencing and Sanger sequencing.Results:The clinical manifestations of the 2 probands in the 2 families were consistent with the diagnosis of dystrophic epidermolysis bullosa, and the symptoms of the proband in family 1 were more serious than those of other patients in the family. Genetic testing showed that all patients in family 1 carried a mutation c.6082G>C (p.G2028R) in the COL7A1 gene, and the proband and her phenotypically normal mother and uncle also carried a splice-site mutation c.7068+2 (IVS91) T>G in the COL7A1 gene, both of which were first reported. The proband in family 2 carried the mutations c.6081_6082 ins C (p.G2028Rfs*71) and c.1892G>A (p.W631X, first reported) in the COL7A1 gene, which were inherited from her father and mother, respectively.Conclusion:The two pathogenic mutations may be the molecular mechanism underlying the severe clinical phenotype in the proband in family 1; the first reported mutations enriched the mutation spectrum of the COL7A1 gene.
