[The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease in Hungary].
Hailey-Hailey disease, or chronic benign pemphigus (MIM# 169600), is a genodermatosis arising in adult age with recurrent vesicles and erosions primarily in the flexural areas. It is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion in the suprabasal layers of the epidermis. ATP2C1, encoding the human secretory pathway Ca(2+)-ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey disease. More than 82 different ATP2C1 mutations have been described up to date. In this study, a case of Hailey-Hailey disease is presented where a nucleotide change (1402C > T) in the decoding region of ATP2C1 resulted in a premature stop mutation (R468X). This defect has been reported earlier in a patient of European descent. A brief molecular genetic review of the disorder is also given.
Szigeti
Réka
R
Baranya Megyei Kórház, Központi Laboratórium, Pécs.
Chao
Sheau-Chiou
SC
Várszegi
Dalma
D
Czakó
Márta
M
Kosztolányi
György
G
Kellermayer
Richárd
R
D000368:Aged; D001120:Arginine; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D003596:Cytosine; D005260:Female; D006801:Humans; D006814:Hungary; D016506:Pemphigus, Benign Familial / Q000235:genetics*; D013941:Thymine
D003596:Cytosine; D001120:Arginine; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases; D013941:Thymine