1. Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.
- Author
-
Yu, Yueqian, Mi, Zihao, Fu, Xi'an, Wang, Zhenzhen, Sun, Lele, Liu, Hong, and Zhang, Furen
- Subjects
EPIDERMOLYSIS bullosa ,GENETIC mutation ,TWINS ,MEDICAL genetics ,KERATIN - 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]
- Published
- 2020
- Full Text
- View/download PDF