Familial Benign Chronic Pemphigus

Hailey, Howard

doi:10.1001/archderm.1939.01480220064005

Cited by 189 publications

(66 citation statements)

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“…They vary from premature termination codons, which are likely to lead to reduction in mutated ATP2A2 mRNA through 'nonsense-mediated mRNA decay' as reported for other genes 36 , to polypeptides lacking the sequence encoded by an exon or carrying a single amino acid substitution. As SERCA does not require oligomerization to provide a functional channel 37 39 (benign familial pemphigus) and Grover disease 40 (transient acantholytic dermatosis). Further functional studies are needed to understand the mechanisms by which altered SERCA2 function leads to epidermal acantholysis and dyskeratosis.…”

Section: Serca2 and Cell-to-cell Adhesion In The Epidermismentioning

confidence: 99%

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

et al. 1999

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Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several genes that mapped to this region, we identified mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform (SERCA2) and is highly expressed in keratinocytes. Thirteen mutations were identified, including frameshift deletions, in-frame deletions or insertions, splice-site mutations and non-conservative missense mutations in functional domains. Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.

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Section: Serca2 and Cell-to-cell Adhesion In The Epidermismentioning

confidence: 99%

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

et al. 1999

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“…Hailey-Hailey disease (HHD), or familial benign chronic pemphigus (MIM 169600), is an autosomal dominant inherited disorder of keratinocyte cohesion first described by the Hailey dermatologist brothers (Hailey and Hailey, 1939). It is characterized by suprabasal cell separation (acantholysis) of the epidermis resulting in recurrent blisters, crusted erosions, and warty papules that occur mainly on the neck, axillae, groin, and other intertrigenous folds.…”

mentioning

confidence: 99%

ATP2C1 Gene Mutation Analysis in Italian Patients with Hailey–Hailey Disease

Majore

Biolcati

Barboni

et al. 2005

Journal of Investigative Dermatology

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Hailey-Hailey disease (HHD) is a rare autosomal dominant disorder characterized by recurrent skin lesions predominantly involving the body folds. It is caused by heterozygous mutations in the ATP2C1 gene, encoding the human secretory pathway Ca2+/Mn2+-ATPase protein 1 (hSPCA1). In this report we describe the molecular studies performed in eight HHD cases from Italy that led us to identify six different mutations scattered through the ATP2C1 gene in seven of eight cases. Four of the detected mutations were novel. Our results confirm the high allelic heterogeneity of the ATP2C1 gene and support the notion that HHD is a genetically homogeneous disorder. Furthermore, we created a table summarizing all previously reported ATP2C1 mutations, adapting the nomenclature, if needed, according to the guidelines of the Human Genome Variation Society.

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“…The siblings had recurrent bullae and erosion on their neck regions. 3 Skin biopsies have been reported as pemphigus, pemphigus-like dermatosis and Darier's disease by different dermatopathologists. 4,5 Later, they reported 22 cases in two families through four generations.…”

Section: Historymentioning

confidence: 99%