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, Kazumitsu Sugiura, M. Akiyama, H. Shimizu

Research output: Contribution to journalArticle

14 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

Fingerprint

Palmoplantar Keratoderma
Inheritance Patterns
Mutation
Keratoderma, Palmoplantar, Diffuse
Exome
Serine Proteinase Inhibitors
Epidermis

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Mizuno, O. ; Nomura, T. ; Suzuki, S. ; Takeda, M. ; Ohguchi, Y. ; Fujita, Y. ; Nishie, W. ; Sugiura, Kazumitsu ; Akiyama, M. ; Shimizu, H. / Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. In: British Journal of Dermatology. 2014 ; Vol. 171, No. 4. pp. 847-853.
@article{9e64d577ab644b24b9cfa1a850a8d08b,
title = "Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis",
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.",
author = "O. Mizuno and T. Nomura and S. Suzuki and M. Takeda and Y. Ohguchi and Y. Fujita and W. Nishie and Kazumitsu Sugiura and M. Akiyama and H. Shimizu",
year = "2014",
month = "10",
day = "1",
doi = "10.1111/bjd.13076",
language = "English",
volume = "171",
pages = "847--853",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "4",

}

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, vol. 171, no. 4, pp. 847-853. https://doi.org/10.1111/bjd.13076

Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. / Mizuno, O.; Nomura, T.; Suzuki, S.; Takeda, M.; Ohguchi, Y.; Fujita, Y.; Nishie, W.; Sugiura, Kazumitsu; Akiyama, M.; Shimizu, H.

In: British Journal of Dermatology, Vol. 171, No. 4, 01.10.2014, p. 847-853.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis

AU - Mizuno, O.

AU - Nomura, T.

AU - Suzuki, S.

AU - Takeda, M.

AU - Ohguchi, Y.

AU - Fujita, Y.

AU - Nishie, W.

AU - Sugiura, Kazumitsu

AU - Akiyama, M.

AU - Shimizu, H.

PY - 2014/10/1

Y1 - 2014/10/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84928992046&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84928992046&partnerID=8YFLogxK

U2 - 10.1111/bjd.13076

DO - 10.1111/bjd.13076

M3 - Article

C2 - 24773080

AN - SCOPUS:84928992046

VL - 171

SP - 847

EP - 853

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 4

ER -