A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with hailey-hailey disease

Akitaka Shibata, Kazumitsu Sugiura, Utako Kimura, Kenji Takamori, Masashi Akiyama

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Hailey-Hailey disease (HHD, MIM 16960) is an autosomal dominant disease characterized by suprabasal cell separation (acantholysis) of the epidermis. The clinical features vary and include crusted erosions with vesicular pustules, and erythematous scaly plaques at sites of friction and flexures. The skin lesions are often exacerbated by heat, sweating, mechanical trauma, infection and exposure in ultraviolet B (UVB) (1). Patients have a defect in ATP2C1 encoding the ATPase, Ca2+-transporting, type 2C, member 1; (ATP2C1) on the Golgi apparatus (2). We performed mutation analysis of ATP2C1 in a Japanese patient with HHD and identified the heterozygous novel mutation c.212delT (p.Leu71ArgfsX26). This is a very early truncating mutation, which clearly suggests that haploinsufficiency is an underlying pathomechanism of HHD.

Original languageEnglish
Pages (from-to)719-720
Number of pages2
JournalActa Dermato-Venereologica
Volume93
Issue number6
DOIs
Publication statusPublished - 30-10-2013

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Benign Familial Pemphigus
Haploinsufficiency
Mutation
Acantholysis
Sweating
Calcium-Transporting ATPases
Friction
Cell Separation
Golgi Apparatus
Epidermis
Hot Temperature
Skin
Wounds and Injuries
Infection

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

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abstract = "Hailey-Hailey disease (HHD, MIM 16960) is an autosomal dominant disease characterized by suprabasal cell separation (acantholysis) of the epidermis. The clinical features vary and include crusted erosions with vesicular pustules, and erythematous scaly plaques at sites of friction and flexures. The skin lesions are often exacerbated by heat, sweating, mechanical trauma, infection and exposure in ultraviolet B (UVB) (1). Patients have a defect in ATP2C1 encoding the ATPase, Ca2+-transporting, type 2C, member 1; (ATP2C1) on the Golgi apparatus (2). We performed mutation analysis of ATP2C1 in a Japanese patient with HHD and identified the heterozygous novel mutation c.212delT (p.Leu71ArgfsX26). This is a very early truncating mutation, which clearly suggests that haploinsufficiency is an underlying pathomechanism of HHD.",
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A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with hailey-hailey disease. / Shibata, Akitaka; Sugiura, Kazumitsu; Kimura, Utako; Takamori, Kenji; Akiyama, Masashi.

In: Acta Dermato-Venereologica, Vol. 93, No. 6, 30.10.2013, p. 719-720.

Research output: Contribution to journalArticle

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