Author/Editor		Godić, Aleksandar; Miljković, Jovan; Kansky, Aleksej; Glavač, Damjan
Title		Morbus Darier v Sloveniji: epidemiološko-genetična raziskava
Type		članek
Source		In: Miljković J, editor. 2. dermatološki dnevi. Zbornik predavanj Strokovno izpopolnjevanje iz dermatologije z mednarodno udeležbo; 2004 nov 5-7; Maribor. Maribor: Splošna bolnišnica Maribor,
Publication year		2004
Volume		str. 16-20
Language		slo
Abstract		Darier disease (follicular dyskeratosis, Morbus Darier, DD) is an autosomal dominant disease, caused by mutations of the ATP2A2 gene which encodes isoform 2 of calcium pump (Ca2+ ATPase, SDRCA2) in sarco/endoplasmic reticulum in keratinocytes. It pumps calcium from cytosol into the ER lumen. Darier disese is characterized by hyperkeratotic papules and plagues, primariliy in seborrheic areas. Involvement of nails, oral mucous membrane, and neuropsychiatric abnormalities may also be present. So far, 120 family specific ATP2A2 mutations were described. We excamined 28 Slovenian DD patients (10 males, 18 females). They belonged to 8 families 13 of them were isolated cases with no data on DD in their families. we isolated DNA from peripheral blood leukocytes ansd screen for mutation by single stranded conformational analysis (SSCA). The subsequently sequenced bands which showed abnormal electrophoretic mobility detected by SSCA. We identified 7 different mutations in 4 families and in 4 sporadic patients, 4 are new (A516P, R559G, 464-6del6, 1762-6del18). The P160L mutadon was detected in a patient with severe disease. It affects the A-domain of the calcium pump. We detected two different splice mutations in severely affected patients who had a history of epilepsy, mental retardartion, affectine psychosis, chronic kidney failure, hypertension, infertility and sensorineural deafness. These results imply possibility that ATP2A2 mutations could be involved in the pathogenesis of other diseases. Our investigation is the first of its kind in Slovenia from the epidemiological, clinical and genetical view of Darier disease.
Descriptors		KERATOSIS FOLLICULARIS CA(2+)-TRANSPORTING ATPASE MUTATION SLOVENIA