Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon

Translated title of the contribution: The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease) in Hungary

Réka Szigeti, Sheau Chiou Chao, Dalma Várszegi, Márta Czakó, György Kosztolányi, Richárd Kellermayer

Research output: Contribution to journalShort survey

1 Citation (Scopus)

Abstract

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.

Original languageHungarian
Pages (from-to)1933-1935
Number of pages3
JournalOrvosi Hetilap
Volume146
Issue number37
Publication statusPublished - 2005 Dec 1

Fingerprint

Benign Familial Pemphigus
Hungary
Mutation
Inborn Genetic Diseases
Secretory Pathway
Keratinocytes
Epidermis
Adenosine Triphosphatases
Molecular Biology
Nucleotides
Skin
Genes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Szigeti, R., Chao, S. C., Várszegi, D., Czakó, M., Kosztolányi, G., & Kellermayer, R. (2005). Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon. Orvosi Hetilap, 146(37), 1933-1935.
Szigeti, Réka ; Chao, Sheau Chiou ; Várszegi, Dalma ; Czakó, Márta ; Kosztolányi, György ; Kellermayer, Richárd. / Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon. In: Orvosi Hetilap. 2005 ; Vol. 146, No. 37. pp. 1933-1935.
@article{cf5e17ad090a4ebb91c43af8f4d4b3d7,
title = "Az elso, genetikai vizsg{\'a}lattal is al{\'a}t{\'a}masztott chronicus benignus pemphigus (Hailey-Hailey-betegs{\'e}g) esete Magyarorsz{\'a}gon",
abstract = "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.",
author = "R{\'e}ka Szigeti and Chao, {Sheau Chiou} and Dalma V{\'a}rszegi and M{\'a}rta Czak{\'o} and Gy{\"o}rgy Kosztol{\'a}nyi and Rich{\'a}rd Kellermayer",
year = "2005",
month = "12",
day = "1",
language = "Hungarian",
volume = "146",
pages = "1933--1935",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "37",

}

Szigeti, R, Chao, SC, Várszegi, D, Czakó, M, Kosztolányi, G & Kellermayer, R 2005, 'Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon', Orvosi Hetilap, vol. 146, no. 37, pp. 1933-1935.

Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon. / Szigeti, Réka; Chao, Sheau Chiou; Várszegi, Dalma; Czakó, Márta; Kosztolányi, György; Kellermayer, Richárd.

In: Orvosi Hetilap, Vol. 146, No. 37, 01.12.2005, p. 1933-1935.

Research output: Contribution to journalShort survey

TY - JOUR

T1 - Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon

AU - Szigeti, Réka

AU - Chao, Sheau Chiou

AU - Várszegi, Dalma

AU - Czakó, Márta

AU - Kosztolányi, György

AU - Kellermayer, Richárd

PY - 2005/12/1

Y1 - 2005/12/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=33644647647&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33644647647&partnerID=8YFLogxK

M3 - Short survey

C2 - 16255378

AN - SCOPUS:33644647647

VL - 146

SP - 1933

EP - 1935

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 37

ER -