Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene

Nikolova,Slavena Enkova; Kamburova,Zornitsa Bogomilova; Vasilev,Preslav Plamenov; Kovacheva,Katya Stefanova; Yordanova,Ivelina Asparuhova

doi:10.3892/br.2024.1855

Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene

Authors:
- Slavena Enkova Nikolova
- Zornitsa Bogomilova Kamburova
- Preslav Plamenov Vasilev
- Katya Stefanova Kovacheva
- Ivelina Asparuhova Yordanova
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Affiliations: Department of Medical Genetics, Medical University‑Pleven, Center of Medical Genetics, ‘Dr Georgi Stranski’ University Hospital, 5800 Pleven, Bulgaria, Department of Dermatology, Venereology and Allergology, Medical University‑Pleven, ‘Dr Georgi Stranski’ University Hospital, 5800 Pleven, Bulgaria
Published online on: September 11, 2024 https://doi.org/10.3892/br.2024.1855
Article Number: 167
Copyright: © Nikolova et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Epidermolysis bullosa (EB) is an inherited skin condition whose hallmark is skin fragility caused by minimal trauma or friction. The dystrophic type of EB (DEB), accounting for 30% of all cases, is caused by mutations in the gene encoding type VII collagen α1 chain (COL7A1). It is inherited in an autosomal‑dominant or autosomal‑recessive manner. The clinical manifestations tend to be variable and frequently overlapping. Therefore, genetic testing is of great significance for establishing an exact genetic diagnosis. The present case study reports on a female patient with a clinical diagnosis of DEB, who had an inconclusive phenotype with no family history of DEB. Genetic analysis of the patient, via next‑generation sequencing, revealed a compound heterozygous state for the COL7A1 gene. Segregation analysis revealed the parental origin of both variants‑a missense variant [c.6022C>T p.(Arg2008Cys)] inherited from the father and a novel frameshift variant [c.3474del p.(Val1160Ter)] inherited from the mother. The established result assigned an exact genetic diagnosis and type of inheritance and allowed the personalization of the genetic counseling for this patient with regard to prognosis and future reproduction.

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