Premium
A novel de novo mutation p.Ala428Asp in KRT 5 gene as a cause of localized epidermolysis bullosa simplex
Author(s) -
StawczykMacieja Marta,
WertheimTysarowska Katarzyna,
Jakubowski Rafał,
SzczerkowskaDobosz Aneta,
Krygier Magdalena,
Wilkowska Aleksandra,
Sawicka Justyna,
Nowak Wiesław,
Bal Jerzy,
Nowicki Roman
Publication year - 2019
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/exd.13788
Subject(s) - epidermolysis bullosa simplex , missense mutation , epidermolysis bullosa , mutation , gene , keratin 14 , genetics , phenotype , genotype , medicine , genotype phenotype distinction , biology , transgene , genetically modified mouse
Epidermolysis bullosa is a group of inherited blistering skin diseases resulting in most cases from missense mutations in KRT 5 and KRT 14 genes encoding the basal epidermal keratins 5 and 14. Here, we present a patient diagnosed with a localized subtype of epidermolysis bullosa simplex caused by a heterozygous mutation p.Ala428Asp in the KRT 5 gene, that has not been previously identified. Moreover, a bioinformatic analysis of the novel mutation was performed, showing changes in the interaction network between the proteins. Identification of novel mutations and genotype‐phenotype correlations allow to better understanding of underlying pathophysiologic bases and is important for genetic counselling, patients’ management, and disease course prediction.