ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease

Silvia Majore, Gianfranco Biolcati, Luana Barboni, Carlo Cannistraci, Francesco Binni, Alessandra Crisi, Mauro Picardo, Paola Grammatico

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)933-935
Number of pages3
JournalJournal of Investigative Dermatology
Volume125
Issue number5
DOIs
Publication statusPublished - Nov 2005

Fingerprint

Benign Familial Pemphigus
Genes
Mutation
Gene encoding
Terminology
Adenosine Triphosphatases
Calcium-Transporting ATPases
Secretory Pathway
Skin
Human Genome
Italy
Guidelines
Proteins

Keywords

  • Allelic heterogeneity
  • ATP2C1 gene mutations summary
  • Hailey-Hailey disease
  • Italian population
  • Sequence analysis

ASJC Scopus subject areas

  • Dermatology

Cite this

ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease. / Majore, Silvia; Biolcati, Gianfranco; Barboni, Luana; Cannistraci, Carlo; Binni, Francesco; Crisi, Alessandra; Picardo, Mauro; Grammatico, Paola.

In: Journal of Investigative Dermatology, Vol. 125, No. 5, 11.2005, p. 933-935.

Research output: Contribution to journalArticle

Majore, Silvia ; Biolcati, Gianfranco ; Barboni, Luana ; Cannistraci, Carlo ; Binni, Francesco ; Crisi, Alessandra ; Picardo, Mauro ; Grammatico, Paola. / ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease. In: Journal of Investigative Dermatology. 2005 ; Vol. 125, No. 5. pp. 933-935.
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