KRT5基因新生突变致重度型单纯型大疱性表皮松解症一家系

doi:10.35541/cjd.20200315

Abstract

Abstract: 【Abstract】 Objective To detect genetic mutations in a case of severe epidermolysis bullosa simplex. Methods Clinical data and peripheral blood samples were collected from the patient and her parents, and genomic DNA was extracted. Whole exome sequencing was performed to identify causative gene mutations in the patient, and then Sanger sequencing to verify the mutations among the family members. Results A heterozygous mutation c.1429G>A at position 1429 in exon 7 of the KRT5 gene was identified in the patient, which led to the substitution of glutamic acid by lysine at amino acid position 477 （p.Glu477Lys） of keratin 5 encoded by the KRT5 gene. The mutation was not detected in her unaffected parents. Conclusion A causative mutation c.1429G>A （p.Glu477Lys） in the KRT5 gene was identified in the patient with severe epidermolysis bullosa simplex, which was a de novo mutation.

Key words: Epidermolysis bullosa simplex, DNA mutational analysis, Keratin-5, KRT5 gene

Wang Xiaopo, Chen Zhiming, Yang Yong, Sun Jianfang . A family of severe epidermolysis bullosa simplex caused by a de novo mutation in the KRT5 gene[J]. Chinese Journal of Dermatology, 2021, 54(3): 229-231.doi:10.35541/cjd.20200315

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A family of severe epidermolysis bullosa simplex caused by a de novo mutation in the KRT5 gene

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