Identification of a KRT9 gene variant and preimplantation genetic diagnosis in a Chinese family with KRT9-palmoplantar epidermal differentiation disorder

We identified the c.503T > C (p. Leu168Ser) missense mutation in exon 1 of the KRT9 gene as the cause of KRT9-palmoplantar epidermal differentiation disorder (KRT9-pEDD) in a Chinese family. Under the guidance of comprehensive genetic counseling, employing PGT-M, we successfully prevented the transmission of the KRT9-pEDD pathogenic variant, resulting in the birth of a healthy child.