Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing
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 inheritan...
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| Format: | Article |
| Language: | English |
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Wiley
2021-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1748 |
| _version_ | 1818559104392626176 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Thi Huyen Thuong Ma |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T00:21:02Z |
| format | Article |
| id | doaj.art-12f506dda081432889c0d35679680a8f |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-14T00:21:02Z |
| publishDate | 2021-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-12f506dda081432889c0d35679680a8f2022-12-21T23:25:12ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-08-0198n/an/a10.1002/mgg3.1748Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencingThi Huyen Thuong Ma0Thi Lan Anh Luong1Thu Lan Hoang2Thi Thanh Hoa Nguyen3Thi Ha Vu4Van Khoa Tran5Duy Bac Nguyen6Tien Sang Trieu7Hai Ha Nguyen8Van Hai Nong9Dang Ton Nguyen10Institute of Genome Research Vietnam Academy of Science and Technology Hanoi VietnamHanoi Medical University Hanoi VietnamHanoi Medical University Hanoi VietnamInstitute of Genome Research Vietnam Academy of Science and Technology Hanoi VietnamHanoi Medical University Hanoi VietnamVietnam Military Medical University Hanoi VietnamVietnam Military Medical University Hanoi VietnamVietnam Military Medical University Hanoi VietnamInstitute of Genome Research Vietnam Academy of Science and Technology Hanoi VietnamInstitute of Genome Research Vietnam Academy of Science and Technology Hanoi VietnamInstitute of Genome Research Vietnam Academy of Science and Technology Hanoi VietnamAbstract 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.https://doi.org/10.1002/mgg3.1748COL7A1dystrophic epidermolysis bullosanovel variantswhole‐exome sequencing |
| spellingShingle | 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 Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing Molecular Genetics & Genomic Medicine COL7A1 dystrophic epidermolysis bullosa novel variants whole‐exome sequencing |
| title | Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing |
| title_full | Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing |
| title_fullStr | Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing |
| title_full_unstemmed | Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing |
| title_short | Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing |
| title_sort | novel and very rare causative variants in the col7a1 gene of vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole exome sequencing |
| topic | COL7A1 dystrophic epidermolysis bullosa novel variants whole‐exome sequencing |
| url | https://doi.org/10.1002/mgg3.1748 |
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