Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma
Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome sequencing was performed, followed by validat...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | zho |
| Published: |
editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology
2023-10-01
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| Series: | Pifu-xingbing zhenliaoxue zazhi |
| Subjects: | |
| Online Access: | http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2023.05.004 |
| Summary: | Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome sequencing was performed, followed by validation of locus of mutation using Sanger sequencing. Results Genetic test revealed a missense mutation (c.482A>G, p.Asn161Ser) in exon 1 of the KRT9 gene in the proband and her mother, and no mutation in her father. Conclusion The identified missense mutation (c.482A>G, p.Asn161Ser) in exon 1 of the KRT9 gene is likely the cause of epidermolytic palmoplantar keratoderma in this family. |
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| ISSN: | 1674-8468 |