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Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
- Source :
- Frontiers in Genetics, Frontiers in Genetics, Vol 12 (2021)
- Publication Year :
- 2021
- Publisher :
- Frontiers Media S.A., 2021.
-
Abstract
- 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.
- Subjects :
- medicine.medical_specialty
medicine.drug_class
business.industry
Case Report
skin defect
Disease
QH426-470
medicine.disease
Pathogenicity
Dermatology
Epidermolysis bullosa simplex
KLHL24
medicine
Natriuretic peptide
Etiology
Genetics
de novo pathogenic variants
follow-up
Molecular Medicine
Epidermolysis bullosa
epidermolysis bullosa
Normal skin
business
Gene
Genetics (clinical)
Subjects
Details
- Language :
- English
- ISSN :
- 16648021
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Frontiers in Genetics
- Accession number :
- edsair.doi.dedup.....85c93c91129f1075be3c095ad73c277c