Molecular and clinical characterization in Japanese and Korean patients with Hailey–Hailey disease: Six new mutations in the ATP2C1 gene

Hamada, Takahiro; Fukuda, Shunpei; Sakaguchi, Shinji; Yasumoto, Shinichiro; Kim, Soo Chan; Hashimoto, Takashi

doi:10.1016/j.jdermsci.2008.02.003

Cited by 27 publications

(33 citation statements)

References 30 publications

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“…We did not find any mutation in 13 patients (25%), and the ratio was similar to the published work . The reason may be that the causal mutations were in the areas that we did not detect, such as introns, non‐coding regions or promotor regions.…”

Section: Discussionsupporting

confidence: 89%

Review of 52 cases with Hailey–Hailey disease identified 25 novel mutations in Chinese Han population

Wang

Sun

et al. 2019

The Journal of Dermatology

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Hailey–Hailey disease (HHD) is a rare autosomal dominant inherited keratosis caused by mutations in ATP2C1. The aim of our study was to identify and analyze the features of the mutations in HHD. We examined 52 Chinese Han cases which were diagnosed as HHD based on their clinical and histological findings. Genomic DNA polymerase chain reaction and direct sequencing of ATP2C1 were performed from peripheral blood samples of the patients and 100 unrelated healthy controls. Twenty‐five novel mutations and 14 recurrent mutations were identified, including 11 (28.2%) missense mutations, nine (23.1%) frame‐shift deletion mutations, eight (20.5%) nonsense mutations, seven (17.9%) splicing mutations and four (10.3%) frame‐shift insertion mutations. Together with ours, all 209 mutations showed a uniform distribution without hotspots or clusters. In addition, there is no specific genotype–phenotype correlation in HHD. Our findings update the spectrum of mutations in ATP2C1.

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Section: Discussionsupporting

confidence: 89%

Review of 52 cases with Hailey–Hailey disease identified 25 novel mutations in Chinese Han population

Wang

Sun

et al. 2019

The Journal of Dermatology

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“…We did not find mutations in 17 patients (24%) with DD and three patients (17%) with HHD, which is similar to figures reported in the literature [Sakuntabhai et al., ; Hu et al., ; Ikeda et al., ; Ringpfeil et al., ; Dobson‐Stone et al., ; Yokota et al., ; Ikeda et al., ; Li et al., ; Zhang et al., ; Hamada et al., ; Bchetnia et al., ; Cheng et al., ; Godic et al., ; Fu et al., ; Klausegger et al., ; Green et al., ; ]. Of interest though, one DD patient showed skipping of exon 4 of ATP2A2 on the mRNA level, which indicates that, for instance, larger deletions or cryptic splice‐site mutations may account for the disease phenotype.…”

Section: Diagnostic Relevancesupporting

confidence: 89%

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

et al. 2017

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The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier disease (DD) and Hailey-Hailey disease (HHD). DD is caused by mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated with HHD. Both are inherited as autosomal-dominant traits. DD is mainly defined by warty papules in seborrheic and flexural areas, whereas the major symptoms of HHD are vesicles and erosions in flexural skin. Both phenotypes are highly variable. In 12%-40% of DD patients and 12%-55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found. We provide a comprehensive review of clinical variability in DD and HHD and a review of all reported mutations in ATP2A2 and ATP2C1. Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD. We created a database for all mutations in ATP2A2 and ATP2C1 using the Leiden Open Variation Database (LOVD v3.0), for variants reported in the literature and future inclusions. This data may be of use as a reference tool in further research on treatment of DD and HHD.

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“…Few nonsense mutations were frequently reported in different families worldwide (reports with at least three cases): 115 C > T causing R39X; 6, 18, 19 457 C > T causing R153X; 7, 20, 21, 22, 23, 24, 25 1402 C > T causing R468X; 7, 26, 27, 28 1516 C > T causing Q506X; 29, 30 and 2395 C > T causing R799X. 18, 25, 31, 32, 33, 34 The above single residues represent ‘hotspots' for mutations, and notably, they all occur at CpG sites where the possibility of mutations is higher.…”

Section: Mutations On the Human Atp2c1 Genementioning

confidence: 99%

ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking

et al. 2016

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ATP2C1 gene codes for the secretory pathway Ca2+/Mn2+-ATPase pump type 1 (SPCA1) localizing at the golgi apparatus. Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey–Hailey disease, a rare skin disorder. In the last few years, several mutations have been described, and here we summarize how they are distributed along the gene and how missense mutations affect protein expression. SPCA1 is expressed in four different isoforms through alternative splicing of the ATP2C1 gene and none of these isoforms is differentially affected by any of these mutations. However, a better understanding of the tissue specific expression of the isoforms, their localization along the secretory pathway, their specific binding partners and the role of the C-terminal tail making isoforms different from each other, will be future goals of the research in this field.

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Molecular and clinical characterization in Japanese and Korean patients with Hailey–Hailey disease: Six new mutations in the ATP2C1 gene

Cited by 27 publications

References 30 publications

Review of 52 cases with Hailey–Hailey disease identified 25 novel mutations in Chinese Han population

Review of 52 cases with Hailey–Hailey disease identified 25 novel mutations in Chinese Han population

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking

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