AUTHOR=Xu Xiaojing , Zhao Juan , Wang Chao , Qu Xiaoxuan , Ran Menglong , Ye Fang , Shen Ming , Wang Kundi , Zhang Qi 

TITLE=Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex

JOURNAL=Frontiers in Genetics

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.729628

DOI=10.3389/fgene.2021.729628

ISSN=1664-8021

ABSTRACT=<p><bold>Objectives:</bold> The aim of this study was to determine the molecular etiology and clinical manifestations of a pair of Chinese twins affected with epidermolysis bullosa simplex. Pediatricians should pay attention to the early genetic diagnosis of this disease.</p><p><bold>Methods:</bold> Histopathological examination of HE-stained skin, electron microscopy of biopsied normal skin, and whole-exome sequencing was performed to assess pathogenicity and conservation of detected mutations. Two years later, the cutaneous and extracutaneous manifestations of the twins were comprehensively evaluated.</p><p><bold>Results:</bold><italic>A de novo</italic> pathogenic variant c.2T&gt;C (p.M1T) in <italic>KLHL24</italic> (NM_017,644) was identified in both twins. The characteristics of extensive skin defects on the extremities at birth and the tendency to lesson with increasing age were confirmed. No positive sensitive markers, such as B-type natriuretic peptide, cardiac troponin I, for cardiac dysfunction were detected.</p><p><bold>Conclusions:</bold> The <italic>de novo</italic> pathogenic variants c.2T&gt;C (p.M1T) in <italic>KLHL24</italic> (NM_017,644) contributes to the development of epidermolysis bullosa. Genetic diagnosis at birth or early infancy can better predict the disease prognosis and guide the treatment.</p>