Missense mutation analysis of the COL7A1 gene in a pedigree with dominant dystrophic epidermolysis bullosa
- VernacularTitle:显性营养不良型大疱性表皮松解症一家系COL7A1基因错义突变分析
- Author:
Linhong YU
1
;
Huaiyu WANG
;
Changhua ZHU
;
Linxin DONG
;
Baofeng WU
;
Lihang LIN
;
Xuemin XIAO
Author Information
- Keywords: Epidermolysis bullosa dystrophica; DNA mutational analysis; COL7A1 gene; Missense mutation
- From: Chinese Journal of Dermatology 2024;57(5):455-458
- CountryChina
- Language:Chinese
- Abstract: Objective:To detect gene mutations in a pedigree with dominant dystrophic epidermolysis bullosa (DDEB) .Methods:A 20-year-old male proband presented with repeated blisters, ulceration, pigmentation, scars on the limbs, and deformation of the nails/toenails after birth. There were 5 patients in the 3-generation family, and they all presented with typical skin lesions. Peripheral blood samples were obtained from 14 members of the pedigree (including the 5 patients) and 100 unrelated healthy controls. Whole-exome sequencing was performed in the proband to identify relevant mutation sites, which were then confirmed in the family by Sanger sequencing.Results:Genetic testing indicated that the proband and the other 4 patients all carried a missense mutation (c.7885G>A) in exon 107 of the COL7A1 gene, resulting in the substitution of glycine by arginine at amino acid position 2629 (p.G2629R). The mutation was identified neither in the 9 healthy relatives nor in the 100 unrelated healthy controls. The mutation co-segregated with DDEB in the family, and was not included in databases such as Pubmed, HGMD or ClinVar, suggesting it was a novel missense mutation. The amino acid encoded by this mutation may alter the structure of type Ⅶ collagen, thereby affecting its function.Conclusion:A novel missense mutation was identified in exon 107 of the COL7A1 gene in the family with DDEB, expanding the spectrum of mutations in the COL7A1 gene.
