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目的:报道1例重度型单纯型大疱性表皮松解症，并检测其基因突变。方法:收集患者及其父母资料和外周血，提取基因组DNA，全外显子组测序筛查患儿致病基因，随后采用Sanger测序对家系成员进行验证。结果:患者KRT5基因第7号外显子第1 429位碱基发生G→A（c.1429G>A）杂合突变，导致KRT5基因所编码的蛋白第477位谷氨酸转换成赖氨酸（p.Glu477Lys），其父母未发现该突变。结论:该例重度型单纯型大疱性表皮松解症患者存在KRT5基因c.1429G>A（p.Glu477Lys）致病突变，属新生突变。“,”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 an de novo mutation.n