A family of severe epidermolysis bullosa simplex caused by a de novo mutation in the KRT5 gene / 中华皮肤科杂志

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.