Nagashima-type palmoplantar keratosis in a Chinese Han population

Zhang,Jia; Zhang,Guolong; Ni,Cheng; Cheng,Ruhong; Liang,Jianying; Li,Ming; Yao,Zhirong

doi:10.3892/mmr.2016.5757

Nagashima-type palmoplantar keratosis in a Chinese Han population

Authors:
- Jia Zhang
- Guolong Zhang
- Cheng Ni
- Ruhong Cheng
- Jianying Liang
- Ming Li
- Zhirong Yao
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Affiliations: Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China, Department of Phototherapy, Shanghai Skin Disease Hospital, Shanghai 200050, P.R. China
Published online on: September 21, 2016 https://doi.org/10.3892/mmr.2016.5757
Pages: 4049-4054
Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c.796C>T) and four compound heterozygous mutations in nine patients, including one novel mutation (c.122_127delTGGTCC). Nine out of the 12 patients were diagnosed with NPPK due to SERPINB7 pathogenic mutations, and the results expanded the known mutation spectrum of NPPK. Taking the other seven reported Chinese patients, who had been definitively diagnosed with NPPK by genetic testing, into account, the present study further demonstrated that NPPK is a common entity in Mainland China, and c.796C>T is the most prevalent mutation and exerts a founder effect. Furthermore, the NPPK cases described in the current study presented a consistently mild phenotype, as compared with the degrees of phenotypic variability associated with other types of relatively severe PPK, including Mal de Meleda and Olmsted syndrome.

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