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Updated: Jul 16, 2026
07:29
Characterization of In Vitro Differentiation of Human Primary Keratinocytes by RNA-Seq Analysis
Published on: May 16, 2020
[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]
Xin-Zhen Yin1, Bao-Rong Zhang, Mei-Ping Ding
1Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China. xinzhen_yin@163.com
Yi Chuan = Hereditas
|March 21, 2007
Summary
Two Chinese families with epidermolytic palmoplanter keratoderma (EPPK) were identified with novel keratin 9 gene (KRT9) mutations. These N160S and L167S mutations cause palmoplantar keratoderma by affecting keratin 9 expression and palm epidermis structure.
Area of Science:
- Dermatology and Genetics
- Molecular Biology
- Histopathology
Context:
- Palmoplantar keratoderma (PPK) is a group of inherited skin disorders affecting the palms and soles.
- Epidermolytic palmoplanter keratoderma (EPPK) is a subtype characterized by blistering and thickening of the skin.
- The keratin 9 gene (KRT9) is crucial for epidermal structure and function.
Purpose:
- To investigate the clinical and pathological features of two Chinese pedigrees with EPPK.
- To identify the genetic mutations responsible for EPPK in these families.
- To analyze the expression of keratin 9 (K9) in affected palm tissue.
Summary:
- Histopathology revealed vacuolar changes in suprabasal keratinocytes and epidermal thickening in affected individuals.
- Genomic DNA analysis of 46 family members identified heterozygous missense mutations (N160S and L167S) in exon 1 of the KRT9 gene.
- These KRT9 mutations were found to be disease-causing in the two Chinese pedigrees with EPPK.
Impact:
- Identifies novel disease-causing mutations in KRT9, expanding the understanding of EPPK genetics.
- Provides insights into the role of KRT9 in epidermal development and integrity.
- Contributes to the diagnosis and potential therapeutic strategies for EPPK.
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