Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis

O. Mizuno, T. Nomura, S. Suzuki, M. Takeda, Y. Ohguchi, Y. Fujita, W. Nishie, K. Sugiura, M. Akiyama, H. Shimizu

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17 Citations (Scopus)

Abstract

Background Nagashima-type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse transgressive palmoplantar keratoderma (PPK). Very recently, putative loss-of-function mutations in SERPINB7, which encodes a member of the serine protease inhibitor superfamily and is abundantly expressed in the epidermis, have been identified as a cause of NPPK. Objectives To confirm further the role of SERPINB7 mutations in the pathogenesis of NPPK. Methods We analysed 10 Japanese families with NPPK using Sanger and/or whole-exome sequencing. Results We identified one novel and three recurrent null mutations in SERPINB7. In all the families, the NPPK trait was inherited in an autosomal recessive manner; in one of the families, there was pseudodominant inheritance, which had not been described in NPPK. Conclusions These data clearly provide further evidence that NPPK is caused by loss-of-function mutations in SERPINB7. What's already known about this topic? Nagashima-type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse transgressive palmoplantar keratoderma. Very recently, loss-of-function mutations in SERPINB7 have been identified as a cause of NPPK. What does this study add? This study further confirms that NPPK is a distinct clinical entity caused by loss-of-function mutations in SERPINB7. Our results provide the first evidence for pseudodominant inheritance in NPPK.

Original languageEnglish
Pages (from-to)847-853
Number of pages7
JournalBritish Journal of Dermatology
Volume171
Issue number4
DOIs
Publication statusPublished - 01-10-2014

All Science Journal Classification (ASJC) codes

  • Dermatology

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    Mizuno, O., Nomura, T., Suzuki, S., Takeda, M., Ohguchi, Y., Fujita, Y., Nishie, W., Sugiura, K., Akiyama, M., & Shimizu, H. (2014). Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. British Journal of Dermatology, 171(4), 847-853. https://doi.org/10.1111/bjd.13076