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Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.
- Source :
- Australasian Journal of Dermatology; May2020, Vol. 61 Issue 2, pe267-e269, 3p, 1 Color Photograph, 1 Chart
- Publication Year :
- 2020
-
Abstract
- Epidermolysis bullosa simplex, characterized by mechanical fragility and blistering within the basal layer of the epidermis, is a rare inherited skin disorder with a prevalence of about 1 in 25 000-50 000.[1] Mutations in several genes, including I KRT5 i , I KRT14 i , I PLEC i , I DSP i , I JUP i , I EXPH5, TGM5 i and I DST i , have been reported.[2] Among them, the mutations in I KRT5 i and I KRT14 i account for 75% of cases.[3] To date, a total of 143 and 112 I KRT5 i and I KRT14 i mutations have been reported, respectively (http://www.interfil.org). The basis for the disease likely involves protein-protein interactions between the two genes and their associated expression.[8] To date, five patients with digenic inheritance of epidermolysis bullosa simplex with I KRT5 i and I KRT14 i mutations have been reported. Among them, the probands' phenotypes in two families were more severe when compared to their affected parents carrying one single mutation in I KRT5 i or I KRT14 i .[[4]] The phenotypes and genetic mutations of reported cases are summarized in Table. [Extracted from the article]
- Subjects :
- EPIDERMOLYSIS bullosa
GENETIC mutation
TWINS
MEDICAL genetics
KERATIN
Subjects
Details
- Language :
- English
- ISSN :
- 00048380
- Volume :
- 61
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Australasian Journal of Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 143217982
- Full Text :
- https://doi.org/10.1111/ajd.13236