A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i>
Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by minor mechanical trauma to the skin. The skin fragility observed in the EBS is mainly caused by pathogenic variants in the <i>KRT5</i&...
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| Format: | Article |
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MDPI AG
2021-09-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/10/1503 |
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| author | Francesco Paduano Emma Colao Teresa Grillone Marco Flavio Michele Vismara Rosario Amato Steven Nisticò Chiara Mignogna Stefano Dastoli Fernanda Fabiani Rossella Zucco Francesco Trapasso Nicola Perrotti Rodolfo Iuliano |
| author_facet | Francesco Paduano Emma Colao Teresa Grillone Marco Flavio Michele Vismara Rosario Amato Steven Nisticò Chiara Mignogna Stefano Dastoli Fernanda Fabiani Rossella Zucco Francesco Trapasso Nicola Perrotti Rodolfo Iuliano |
| author_sort | Francesco Paduano |
| collection | DOAJ |
| description | Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by minor mechanical trauma to the skin. The skin fragility observed in the EBS is mainly caused by pathogenic variants in the <i>KRT5</i> and <i>KRT14</i> genes that compromise the mechanical stability of epithelial cells. By performing DNA sequencing in a female patient with EBS, we found the pathogenic variant c.967G>A (p.Val323Met) in the <i>KRT5</i> gene. This variant co-segregated with EBS in the family pedigree and was transmitted in an autosomal dominant inheritance manner. This is the first report showing a familial form of EBS due to this pathogenic variant. |
| first_indexed | 2024-03-10T06:32:43Z |
| format | Article |
| id | doaj.art-656d9be5d07240619c31520432efdab8 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T06:32:43Z |
| publishDate | 2021-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-656d9be5d07240619c31520432efdab82023-11-22T18:20:57ZengMDPI AGGenes2073-44252021-09-011210150310.3390/genes12101503A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i>Francesco Paduano0Emma Colao1Teresa Grillone2Marco Flavio Michele Vismara3Rosario Amato4Steven Nisticò5Chiara Mignogna6Stefano Dastoli7Fernanda Fabiani8Rossella Zucco9Francesco Trapasso10Nicola Perrotti11Rodolfo Iuliano12Medical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, ItalyMedical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, ItalyMedical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, ItalyMedical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, ItalyMedical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, ItalyDepartment of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, ItalyDepartment of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, ItalyDepartment of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, ItalyMedical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, ItalyDepartment of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, ItalyMedical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, ItalyMedical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, ItalyMedical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, ItalyEpidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by minor mechanical trauma to the skin. The skin fragility observed in the EBS is mainly caused by pathogenic variants in the <i>KRT5</i> and <i>KRT14</i> genes that compromise the mechanical stability of epithelial cells. By performing DNA sequencing in a female patient with EBS, we found the pathogenic variant c.967G>A (p.Val323Met) in the <i>KRT5</i> gene. This variant co-segregated with EBS in the family pedigree and was transmitted in an autosomal dominant inheritance manner. This is the first report showing a familial form of EBS due to this pathogenic variant.https://www.mdpi.com/2073-4425/12/10/1503genodermatosesEBS<i>KRT5</i><i>KRT14</i>cytokeratin |
| spellingShingle | Francesco Paduano Emma Colao Teresa Grillone Marco Flavio Michele Vismara Rosario Amato Steven Nisticò Chiara Mignogna Stefano Dastoli Fernanda Fabiani Rossella Zucco Francesco Trapasso Nicola Perrotti Rodolfo Iuliano A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i> Genes genodermatoses EBS <i>KRT5</i> <i>KRT14</i> cytokeratin |
| title | A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i> |
| title_full | A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i> |
| title_fullStr | A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i> |
| title_full_unstemmed | A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i> |
| title_short | A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i> |
| title_sort | familial form of epidermolysis bullosa simplex associated with a pathogenic variant in i krt5 i |
| topic | genodermatoses EBS <i>KRT5</i> <i>KRT14</i> cytokeratin |
| url | https://www.mdpi.com/2073-4425/12/10/1503 |
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