Autor: |
Thi Huyen Thuong Ma, Thi Lan Anh Luong, Thu Lan Hoang, Thi Thanh Hoa Nguyen, Thi Ha Vu, Van Khoa Tran, Duy Bac Nguyen, Tien Sang Trieu, Hai Ha Nguyen, Van Hai Nong, Dang Ton Nguyen |
Jazyk: |
angličtina |
Rok vydání: |
2021 |
Předmět: |
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Zdroj: |
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021) |
Druh dokumentu: |
article |
ISSN: |
2324-9269 |
DOI: |
10.1002/mgg3.1748 |
Popis: |
Abstract Background Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma‐induced subepidermal blisters and healing with scarring. DEB is caused by mutations in COL7A1, the gene encoding for type VII collagen (COLVII). The DEB inheritance trait is divided into dominant dystrophic epidermolysis bullosa (DDEB) and recessive dystrophic epidermolysis bullosa (RDEB). Methods Whole‐exome sequencing (WES) was performed for identifying mutations in six affected individuals of five Vietnamese families. Results Three novel variants in total of eight variants were found in five families. The first novel variant causing glycine substitution (c.8279G>A, p.G2760E), the remaining two novel variants resulted in splice site affecting (c.4518+2delT and c.5821‐2A>G). Functional analysis indicated that the splice site at c.4518+2delT resulted in a skipping of exon 43, leading to an in‐frame deletion of 12 amino acids. Conclusion Our finding expands the spectrum of COL7A1 mutations and reports altered splicing at c.4518+2delT during the processing of the pre‐mRNA. This study provides an additional scientific basis for diagnosis, genetic counseling, and prognosis purposes of EB patients. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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