Novel nonsense mutation in <i><scp>SERPINB</scp>7</i> and the treatment of foot odor in a patient with Nagashima‐type palmoplantar keratosis

Katsuno, Masako; Shiohama, Aiko; Aoki, Seishiro; Kitamura, Hajime; Sasaki, Tatsuya; Amagai, Masayuki; Kubo, Akiharu

doi:10.1111/1346-8138.13880

Cited by 6 publications

(5 citation statements)

References 5 publications

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“…In addition, fungal infections and palmoplantar skin peeling were reported, but especially palmoplantar skin peeling may be underdiagnosed as the data were lacking for the majority. Skin histology in SERPINA12 patients shows acanthosis with hypergranulosis and keratohyalin granules, and hyperkeratosis, compatible with histological findings with SERPINB7 variants 2,4,10,12–16 . Similar to SERPINA12 patients, most SERPINB7 patients were Asian.…”

Section: Discussionsupporting

confidence: 60%

“…Skin histology in SERPINA12 patients shows acanthosis with hypergranulosis and keratohyalin granules, and hyperkeratosis, compatible with histological findings with SERPINB7 variants. 2,4,10,[12][13][14][15][16] Similar to SERPINA12 patients, most SER-PINB7 patients were Asian. Interestingly, both the SERPI-NA12-and SERPINB7-related hPPK are indicated enriched in Asian and Finnish populations by founder effects.…”

Section: Discussionmentioning

confidence: 92%

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A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

Brandt,

Harjama,

Elomaa

et al. 2023

Acad Dermatol Venereol

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BackgroundHereditary palmoplantar keratodermas (hPPKs) comprise a heterogeneous group of skin disorders characterized by persistent palmoplantar hyperkeratosis. Loss‐of‐function variants in a serine peptidase inhibitor, SERPINA12, have recently been implicated in autosomal recessive diffuse hPPK. The disorder appears to share similarities with another hPPK associated with protease overactivity, namely Nagashima‐type PPK (NPPK) caused by biallelic variants in SERPINB7.ObjectivesThe aim of this study was to enhance the understanding of the clinical and genetic characteristics of serine protease‐related hPPKs caused by variants in SERPINA12 and SERPINB7.MethodsWhole‐exome sequencing (WES) was performed for hPPK patients. Haplotype analysis was completed for the patients with identified recessive SERPINA12 variants and their available family members. In addition, the current literature of SERPINA12‐ and SERPINB7‐related hPPKs was summarized.ResultsThe phenotype of SERPINA12‐related hPPK was confirmed by reporting three new SERPINA12 patients, the first of European origin. A novel SERPINA12 c.1100G>A p.(Gly367Glu) missense variant was identified confirming that the variant spectrum of SERPINA12 include both truncating and missense variants. The previously reported SERPINA12 c.631C>T p.(Arg211*) was indicated enriched in the Finnish population due to a plausible founder effect. In addition, SERPINA12 hPPK patients were shown to share a similar phenotype to patients with recessive variants in SERPINB7. The shared phenotype included diffuse transgradient PPK since birth or early childhood and frequent palmoplantar hyperhidrosis, aquagenic whitening and additional hyperkeratotic lesions in non‐palmoplantar areas. SERPINA12 and SERPINB7 hPPK patients cannot be distinguished without genetic analysis.ConclusionsRecessive variants in SERPINA12 and SERPINB7 leading to protease overactivity and hPPK produce a similar phenotype, indistinguishable without genetic analysis. SERPINA12 variants should be assessed also in non‐Asian patients with diffuse transgradient PPK. Understanding the role of serine protease inhibitors will provide insights into the complex proteolytic network in epidermal homeostasis.

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Section: Discussionsupporting

confidence: 60%

Section: Discussionmentioning

confidence: 92%

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

Brandt,

Harjama,

Elomaa

et al. 2023

Acad Dermatol Venereol

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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%

“…12 In a previous study, the topical application of a 10% aluminum potassium sulfate lotion, with or without the application of 2.5% benzoyl peroxide gel, improved the subjective symptoms and odor of palmoplantar hyperhidrosis. 13 Research on the application of gentamicin to manage NPPK is underway. According to Ohguchi et al, gentamicin restores fulllength SERPINB7 via c.796C>T readthrough in cDNA and enhances in vitro production of full-length SERPINB7 protein in NPPK keratinocytes.…”

Section: Treatment Of Nppkmentioning

confidence: 99%

Two novel mutations of SERPINB7 in eight cases of Nagashima‐type palmoplantar keratosis in the Chinese population

Xiao

Yan

Ren

et al. 2022

The Journal of Dermatology

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Nagashima‐type palmoplantar keratosis (NPPK) is a diffuse, autosomal recessive, and non‐epidermolytic palmoplantar keratosis caused by mutations in the SERPINB7 gene, a member of the serine protease inhibitor superfamily. Genetic studies and case reports suggest that NPPK is the most common palmoplantar keratosis in East Asia but rare in Western countries. This study reports eight NPPK patients in seven pedigrees of the Chinese Han ethnicity with two novel (c.530T>C and c.643A>G) and two recurrent mutations (c.796C>T and c.455G>T) in SERPINB7. The diagnosis of NPPK is now well‐defined because of the typical manifestations and pathogenic gene tests. However, its pathomechanism is still obscure, and treatment remains a challenge. This study reviewed all 15 pathogenic mutations and related data in the 1000 Genomes Project to elucidate the founder effect of SERPINB7. Also, several latest cases of NPPK in areas outside East Asia are presented, including France, Finland, and Thailand. Further clinical investigation and genetic studies are crucial for identifying the pathomechanism of NPPK. Also, large‐scale control studies are required to determine the safety and curative effects of available therapies.

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Novel nonsense mutation in SERPINB7 and the treatment of foot odor in a patient with Nagashima‐type palmoplantar keratosis

Cited by 6 publications

References 5 publications

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

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

Two novel mutations of SERPINB7 in eight cases of Nagashima‐type palmoplantar keratosis in the Chinese population

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