Nagashima‐type palmoplantar keratosis caused by biallelic maternal mutation of <i>SERPINB7</i> with segmental uniparental disomy of chromosome 18q

Hayakawa, Mieko; Tahara, Umi; Ono, Noriko; Aoki, Seishiro; Kawai, Tomoko; Nakabayashi, Kazuhiko; Hata, Kenichiro; Amagai, Masayuki; Kubo, Akiharu

doi:10.1111/1346-8138.15603

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2022

2023

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“…We reviewed 32 NPPK relevant studies since 2013, totaling 389 cases (Table S1). 1–5,17,19–43 Twenty‐nine pathogenic mutations in SERPINB7 were summarized. Only eight out of 389 NPPK cases with a single heterozygous mutation were identified as patients due to either clear family history or undetermined second mutation.…”

Section: Discussionmentioning

confidence: 99%

SERPINB7 mutation causes Nagashima‐type palmoplantar keratosis and its spatiotemporal expression in zebrafish

Lyu

Zhang

Liu

et al. 2023

Experimental Dermatology

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Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive disorder with the main clinical manifestations of erythema, scales and keratotic plaques. In 2013, Kubo et al. 1 identified the causative gene as SERPINB7 by whole-exome sequencing (WES) in three unrelated Japanese NPPK patients. Currently, NPPK cases are mainly reported in Asian populations. Domestic and foreign studies have confirmed the founder effect of the c.796C>T mutation in NPPK. [2][3][4][5] The prevalence of NPPK based on large samples is estimated as 0.975/10 000 in the Chinese population. 6 SERPINB7 encodes the serine protease inhibitor subfamily B member 7 isoform, expressed explicitly in cells of the stratum corneum and stratum granulosum. 1,7 Although the causative gene of

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Section: Discussionmentioning

confidence: 99%