Late‐onset Darier's disease due to a novel missense mutation in the <i><scp>ATP2A2</scp></i> gene: A different missense mutation affecting the same codon has been previously reported in acrokeratosis verruciformis

Ueo, Daisuke; Hamada, Takahiro; Hashimoto, Takashi; Hatano, Yutaka; Okamoto, Osamu; Fujiwara, Sakuhei

doi:10.1111/1346-8138.12058

Cited by 5 publications

(5 citation statements)

References 5 publications

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“…All mutations are found in exon 14, encoding the ATP‐binding domain of SERCA2. The other reported 21 unique variants in exon 14 (see the LOVD database, references [Jacobsen et al., ; Ruiz‐Perez et al., ; Sakuntabhai et al., ; Ringpfeil et al., ; Takahashi et al., ; Ikeda et al., ; Racz et al., ; Quan et al., ; Green et al., ; Ueo et al., ]) are associated with the classic DD phenotype without AKV. Mutations p.(Leu590Pro), p.(Pro602Leu), and p.(Ala698Val) have not been described in patients with classic DD.…”

Section: Clinical Relevancementioning

confidence: 99%

“…d Disease severity in Hailey-Hailey disease: disease severity was scored as either "mild," "moderate," or "severe" according to criteria further explained in the methods section. Ruiz-Perez et al, 1999;Sakuntabhai et al, 1999b;Ringpfeil et al, 2001;Takahashi et al, 2001;Ikeda et al, 2003;Racz et al, 2005;Quan et al, 2008;Green et al, 2013;Ueo et al, 2013]) are associated with the classic DD phenotype without AKV. Mutations p.(Leu590Pro), p.(Pro602Leu), and p.(Ala698Val) have not been described in patients with classic DD.…”

Section: Genotype-phenotype Correlation In Ddmentioning

confidence: 99%

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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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Section: Clinical Relevancementioning

confidence: 99%

Section: Genotype-phenotype Correlation In Ddmentioning

confidence: 99%

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 age of papular acantholytic dyskeratosis onset/manifestation reported in the literature is variable, with multiple examples in each decade of life, including patients in their 60s. Similarly, cases of late onset (tardive) germline Darier disease, including at 50 and 75 years of age 29,32 have been reported.…”

Section: Discussionmentioning

confidence: 85%

“…There is evidence that acrokeratosis verruciformis and Darier disease are allelic disorders with variable expression of overlapping features . Mutations in the same codon of ATP2A2 have resulted in clinical phenotypes of acrokeratosis verruciformis and Darier disease in separate individuals . The p.706D>N mutation falls within a domain regulating enzymatic phosphorylation required for calcium conductance and is known to reduce phosphorylation rate and calcium flux .…”

Section: Discussionmentioning

confidence: 99%

“…28 Mutations in the same codon of ATP2A2 have resulted in clinical phenotypes of acrokeratosis verruciformis and Darier disease in separate individuals. 29 The p.706D>N mutation falls within a domain regulating enzymatic phosphorylation required for calcium conductance and is known to reduce phosphorylation rate and calcium flux. 30 Aberrant calcium flux has been shown to cause loss of epidermal integrity, a hallmark of Darier disease and papular acantholytic dyskeratosis.…”

Section: Discussionmentioning

confidence: 99%

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Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease

et al. 2015

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Papular acantholytic dyskeratosis (PAD), also known as acantholytic dermatosis of the vulvocrural (or anogenital) area, is an uncommon eruption reported predominantly in women. This entity manifests with pruritic papules in the groin/anogenital area and less commonly on the chest. The pathobiology of PAD is uncertain. A 62-year old woman presented with multiple verrucous-appearing lesions in the groin and on the chest showing acantholytic dyskeratosis on histopathology. Given histological similarity of these PAD lesions to Darier disease (DD) due to inherited ATP2A2 mutation, we screened affected and normal tissue and peripheral blood in our patient for mutations in ATP2A2. We found an identical ATP2A2 p.706D>N mutation in multiple independent PAD lesions that was not present in uninvolved skin or peripheral blood DNA. These findings establish somatic mosaicism of ATP2A2 mutations as a genetic cause for PAD.

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Photodermatoses: Kids are not just little people

Naka

Shwayder

Santoro

2016

Clinics in Dermatology

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Late‐onset Darier's disease due to a novel missense mutation in the ATP2A2 gene: A different missense mutation affecting the same codon has been previously reported in acrokeratosis verruciformis

Cited by 5 publications

References 5 publications

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

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

Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease

Photodermatoses: Kids are not just little people

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