Junctional epidermolysis bullosa: genotype-phenotype correlations
Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, COL17A1, ITGA6 and ITGB4 genes. Junctional epidermolysis bullosa is characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical...
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| Format: | Article |
| Language: | English |
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State Scientific Center of Dermatovenereology and Cosmetology
2023-01-01
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| Series: | Vestnik Dermatologii i Venerologii |
| Subjects: | |
| Online Access: | https://vestnikdv.ru/jour/article/viewFile/1391/pdf |
| _version_ | 1797698085355257856 |
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| author | Alexey A. Kubanov Vadim V. Chikin Arfenya E. Karamova Ekaterina S. Monchakovskaya |
| author_facet | Alexey A. Kubanov Vadim V. Chikin Arfenya E. Karamova Ekaterina S. Monchakovskaya |
| author_sort | Alexey A. Kubanov |
| collection | DOAJ |
| description | Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, COL17A1, ITGA6 and ITGB4 genes. Junctional epidermolysis bullosa is characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic defects underlying in the development of the disease. A systematic literature search was performed using PubMed and RSCI, and keywords including junctional epidermolysis bullosa, laminin 332, collagen XVII, 64 integrin. The review includes description of clinical findings of junctional epidermolysis bullosa, mutation location and types, its impact on protein production and functions. To evaluate the impact of gene mutation on protein functions, this review explores the structure and functions of lamina lucida components, including laminin 332, collagen XVII and 64 integrin, which are frequently associated with the development of junctional epidermolysis bullosa. The correlation between severe types of junctional epidermolysis bullosa and mutations resulting in premature stop codon generation and complete absence of protein expression has been described. Although, genotype-phenotype correlations should be analyzed carefully due to mechanisms which enable to improve protein expression. |
| first_indexed | 2024-03-12T03:49:10Z |
| format | Article |
| id | doaj.art-1be20f00f6d241e8a75f9fecfa633c06 |
| institution | Directory Open Access Journal |
| issn | 0042-4609 2313-6294 |
| language | English |
| last_indexed | 2024-03-12T03:49:10Z |
| publishDate | 2023-01-01 |
| publisher | State Scientific Center of Dermatovenereology and Cosmetology |
| record_format | Article |
| series | Vestnik Dermatologii i Venerologii |
| spelling | doaj.art-1be20f00f6d241e8a75f9fecfa633c062023-09-03T12:32:42ZengState Scientific Center of Dermatovenereology and CosmetologyVestnik Dermatologii i Venerologii0042-46092313-62942023-01-01986173810.25208/vdv13911195Junctional epidermolysis bullosa: genotype-phenotype correlationsAlexey A. Kubanov0https://orcid.org/0000-0002-7625-0503Vadim V. Chikin1https://orcid.org/0000-0002-9688-2727Arfenya E. Karamova2https://orcid.org/0000-0003-3805-8489Ekaterina S. Monchakovskaya3https://orcid.org/0000-0002-6402-0962State Research Center of Dermatovenereology and CosmetologyState Research Center of Dermatovenereology and CosmetologyState Research Center of Dermatovenereology and CosmetologyState Research Center of Dermatovenereology and CosmetologyJunctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, COL17A1, ITGA6 and ITGB4 genes. Junctional epidermolysis bullosa is characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic defects underlying in the development of the disease. A systematic literature search was performed using PubMed and RSCI, and keywords including junctional epidermolysis bullosa, laminin 332, collagen XVII, 64 integrin. The review includes description of clinical findings of junctional epidermolysis bullosa, mutation location and types, its impact on protein production and functions. To evaluate the impact of gene mutation on protein functions, this review explores the structure and functions of lamina lucida components, including laminin 332, collagen XVII and 64 integrin, which are frequently associated with the development of junctional epidermolysis bullosa. The correlation between severe types of junctional epidermolysis bullosa and mutations resulting in premature stop codon generation and complete absence of protein expression has been described. Although, genotype-phenotype correlations should be analyzed carefully due to mechanisms which enable to improve protein expression.https://vestnikdv.ru/jour/article/viewFile/1391/pdfjunctional epidermolysis bullosagenotype-phenotype correlationslaminin 332collagen xviiintegrin α6β4 |
| spellingShingle | Alexey A. Kubanov Vadim V. Chikin Arfenya E. Karamova Ekaterina S. Monchakovskaya Junctional epidermolysis bullosa: genotype-phenotype correlations Vestnik Dermatologii i Venerologii junctional epidermolysis bullosa genotype-phenotype correlations laminin 332 collagen xvii integrin α6β4 |
| title | Junctional epidermolysis bullosa: genotype-phenotype correlations |
| title_full | Junctional epidermolysis bullosa: genotype-phenotype correlations |
| title_fullStr | Junctional epidermolysis bullosa: genotype-phenotype correlations |
| title_full_unstemmed | Junctional epidermolysis bullosa: genotype-phenotype correlations |
| title_short | Junctional epidermolysis bullosa: genotype-phenotype correlations |
| title_sort | junctional epidermolysis bullosa genotype phenotype correlations |
| topic | junctional epidermolysis bullosa genotype-phenotype correlations laminin 332 collagen xvii integrin α6β4 |
| url | https://vestnikdv.ru/jour/article/viewFile/1391/pdf |
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