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KRT1 – Diffuse nonepidermolytic Palmoplantar Keratoderma

In a three-generation Han Chinese pedigree, 11 individuals presented with diffuse nonepidermolytic palmoplantar keratoderma (NEPPK) and all carried a heterozygous splice-site mutation c.1255-1G>C in intron 6 of the KRT1 gene, absent in 100 ethnically matched controls and unaffected relatives (PMID:30452289). Clinical and histological findings were concordant with NEPPK. The variant co-segregated perfectly with disease across the pedigree, supporting an autosomal dominant mode of inheritance.

References

  • Genetic testing and molecular biomarkers • 2018 • Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree PMID:30452289

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Single large pedigree with co-segregation of a novel KRT1 splice-site variant

Genetic Evidence

Limited

One autosomal dominant family with 11 affected individuals showing perfect segregation of c.1255-1G>C ([PMID:30452289])

Functional Evidence

Limited

Predicted disruption of normal splicing and concordant histopathology without direct molecular assays