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Updated: Jul 3, 2026
Characterization of In Vitro Differentiation of Human Primary Keratinocytes by RNA-Seq Analysis
Published on: May 16, 2020
[Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma]
Ming Li1, Guo-long Zhang, Jian-xin Zhai
1Department of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu, 214002 People's Republic of China.
Objective:
To analyze the mutation of the keratin 9 gene (KRT9) in a pedigree with epidermolytic plamoplantar keratoderma (EPPK).
Methods:
Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation screening was carried out by polymerase chain reaction (PCR) and direct DNA sequencing.
Results:
A heterozygous nucleotide C to T transition at position 484 in exon 1 of the KRT9 gene was detected in the 3 affected in this family, but was not found in normal individuals in the family and 100 unrelated individuals.
Conclusion:
A missense mutation (484 C to T) in the KRT9 gene has been detected in this EPPK family, which is probably one of the molecular bases of the pathogenesis of the disease.
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