Junctional epidermolysis bullosa: genotype-phenotype correlations

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Abstract

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”, “α6β4 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 α6β4 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.

About the authors

Alexey A. Kubanov

State Research Center of Dermatovenereology and Cosmetology

Email: alex@cnikvi.ru
ORCID iD: 0000-0002-7625-0503
SPIN-code: 8771-4990

MD, Dr. Sci. (Med.), Professor, Academician of the Russian Academy of Sciences

Russian Federation, Korolenko str., 3, bldg 6, 107076, Moscow

Vadim V. Chikin

State Research Center of Dermatovenereology and Cosmetology

Author for correspondence.
Email: chikin@cnikvi.ru
ORCID iD: 0000-0002-9688-2727
SPIN-code: 3385-4723

MD, Dr. Sci. (Med.)

Russian Federation, Korolenko str., 3, bldg 6, 107076, Moscow

Arfenya E. Karamova

State Research Center of Dermatovenereology and Cosmetology

Email: karamova@cnikvi.ru
ORCID iD: 0000-0003-3805-8489
SPIN-code: 3604-6491

MD, Cand. Sci. (Med.), Assistant Professor

Russian Federation, Korolenko str., 3, bldg 6, 107076, Moscow

Ekaterina S. Monchakovskaya

State Research Center of Dermatovenereology and Cosmetology

Email: monchakovskaya@cnikvi.ru
ORCID iD: 0000-0002-6402-0962
SPIN-code: 9859-1912

Junior Research Associate

Russian Federation, Korolenko str., 3, bldg 6, 107076, Moscow

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