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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing Volume 31, issue 2, March-April 2021

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  • Figure 1
Authors
1 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
2 Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan

We enrolled a large four-generation Japanese diffuse palmoplantar keratoderma (DPPK) pedigree of 14 individuals (figure 1A). After informed consent was obtained, genomic DNA from the participants was used for Sanger sequencing (SS) of KRT1 and/or whole-exome sequencing (WES). The proband (III-3) underwent WES and SS; eight other family members (II-2, II-3, III-1, III-4, III-5, III-6, IV-1 and IV-2) underwent only SS. We obtained DNA samples from nine family members: six with DPPK, and three unaffected [...]