Junctional epidermolysis bullosa: genotype-phenotype correlations

Q4 Medicine Vestnik dermatologii i venerologii Pub Date : 2022-11-22 DOI:10.25208/vdv1391
A. Kubanov, V. Chikin, A. Karamova, E. Monchakovskaya
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引用次数: 0

Abstract

Junctional epidermolysis bullosa most commonly results from mutations in theLAMA3, LAMB3, LAMC2, COL17A1, ITGA6 and ITGB4genes. 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.
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大疱性结缔组织表皮松解症:基因型-表型相关性
大疱性交界性表皮松解症最常见的原因是LAMA3、LAMB3、LAMC2、COL17A1、ITGA6和ITGB4基因的突变。交界性大疱性表皮松解症具有临床异质性。迄今为止,科学发现可以评估临床表现的严重程度与疾病发展中潜在的遗传缺陷之间的相关性。使用PubMed和RSCI进行系统的文献检索,关键词包括交界性大疱性表皮松解症、层粘连蛋白332、胶原XVII、64整合素。综述包括交界性大疱性表皮松解症的临床表现、突变位置和类型及其对蛋白质产生和功能的影响。为了评估基因突变对蛋白质功能的影响,本综述探讨了层粘连蛋白332、胶原XVII和64整合素等透明质层成分的结构和功能,这些成分通常与交界性大疱性表皮松解症的发生有关。已经描述了严重类型的交界性大疱性表皮松解症与导致过早产生终止密码子和完全缺乏蛋白质表达的突变之间的相关性。尽管如此,由于能够改善蛋白质表达的机制,应仔细分析基因型-表型相关性。
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来源期刊
CiteScore
0.80
自引率
0.00%
发文量
40
审稿时长
8 weeks
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