title: ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.
abstract: 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.
authors.affiliation: Medical Genetics, Experimental Medicine and Pathology Dept, University La Sapienza, S. Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Majore
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Biolcati
authors.forename: Luana
authors.initials: L
authors.lastname: Barboni
authors.forename: Carlo
authors.initials: C
authors.lastname: Cannistraci
authors.forename: Francesco
authors.initials: F
authors.lastname: Binni
authors.forename: Alessandra
authors.initials: A
authors.lastname: Crisi
authors.forename: Mauro
authors.initials: M
authors.lastname: Picardo
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000328:Adult; D000483:Alleles; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016506:Pemphigus, Benign Familial / Q000235:genetics*
chemical_list: C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases