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

Objectives: 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.Methods: Histopathological examination of HE...

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Autores principales:	Xiaojing Xu, Juan Zhao, Chao Wang, Xiaoxuan Qu, Menglong Ran, Fang Ye, Ming Shen, Kundi Wang, Qi Zhang
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	KLHL24 de novo pathogenic variants epidermolysis bullosa skin defect follow-up Genetics QH426-470
Acceso en línea:	https://doaj.org/article/cb4c4c8703884daeac3920fbfa545f69
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spelling	oai:doaj.org-article:cb4c4c8703884daeac3920fbfa545f692021-11-05T07:06:23ZCase Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex1664-802110.3389/fgene.2021.729628https://doaj.org/article/cb4c4c8703884daeac3920fbfa545f692021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.729628/fullhttps://doaj.org/toc/1664-8021Objectives: 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.Methods: 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.Results:A de novo pathogenic variant c.2T>C (p.M1T) in KLHL24 (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.Conclusions: The de novo pathogenic variants c.2T>C (p.M1T) in KLHL24 (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.Xiaojing XuJuan ZhaoChao WangXiaoxuan QuMenglong RanMenglong RanFang YeMing ShenKundi WangQi ZhangFrontiers Media S.A.articleKLHL24de novo pathogenic variantsepidermolysis bullosaskin defectfollow-upGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	KLHL24 de novo pathogenic variants epidermolysis bullosa skin defect follow-up Genetics QH426-470
spellingShingle	KLHL24 de novo pathogenic variants epidermolysis bullosa skin defect follow-up Genetics QH426-470 Xiaojing Xu Juan Zhao Chao Wang Xiaoxuan Qu Menglong Ran Menglong Ran Fang Ye Ming Shen Kundi Wang Qi Zhang Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
description	Objectives: 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.Methods: 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.Results:A de novo pathogenic variant c.2T>C (p.M1T) in KLHL24 (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.Conclusions: The de novo pathogenic variants c.2T>C (p.M1T) in KLHL24 (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.
format	article
author	Xiaojing Xu Juan Zhao Chao Wang Xiaoxuan Qu Menglong Ran Menglong Ran Fang Ye Ming Shen Kundi Wang Qi Zhang
author_facet	Xiaojing Xu Juan Zhao Chao Wang Xiaoxuan Qu Menglong Ran Menglong Ran Fang Ye Ming Shen Kundi Wang Qi Zhang
author_sort	Xiaojing Xu
title	Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
title_short	Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
title_full	Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
title_fullStr	Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
title_full_unstemmed	Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
title_sort	case report: de novo klhl24 gene pathogenic variants in chinese twin boys with epidermolysis bullosa simplex
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/cb4c4c8703884daeac3920fbfa545f69
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Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex

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