دورية أكاديمية
Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.
| العنوان: | Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues. |
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| المؤلفون: | Harboe TL; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Willems P, Jespersgaard C, Mølgaard Poulsen ML, Sørensen FB, Bisgaard ML |
| المصدر: | Dermatology (Basel, Switzerland) [Dermatology] 2011; Vol. 222 (4), pp. 292-6. Date of Electronic Publication: 2011 Jul 01. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Karger Country of Publication: Switzerland NLM ID: 9203244 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9832 (Electronic) Linking ISSN: 10188665 NLM ISO Abbreviation: Dermatology Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel ; New York : Karger, c1992- |
| مواضيع طبية MeSH: | Mosaicism* , Mutation*, Darier Disease/*genetics, Adult ; Genetic Counseling ; Humans ; Leukocytes ; Male ; Sarcoplasmic Reticulum Calcium-Transporting ATPases/genetics ; Semen ; Skin |
| مستخلص: | Darier disease is an autosomal dominant genodermatosis caused by germline mutations in the ATP2A2 gene. Clinical expression is variable, including rare segmental phenotypes thought to be caused by postzygotic mosaicism. Genetic counseling of segmental Darier patients is complex, as risk of transmitting a nonsegmental phenotype to offspring is of unknown magnitude. We present the first in-depth molecular analysis of a mosaic patient with segmental disease, quantifying proportions of mutated and normal alleles in various tissues. Pyrosequence analysis of DNA from semen, affected and normal skin, peripheral leukocytes and hair revealed an uneven distribution of the mutated allele, from 14% in semen to 37% in affected skin. We suggest a model for segmental manifestation expression where a threshold number of mutated cells is needed for manifestation development. We further recommend molecular analysis of the ATP2A2 gene in semen of male patients with segmental Darier disease to improve genetic counseling. (Copyright © 2011 S. Karger AG, Basel.) |
| المشرفين على المادة: | EC 3.6.3.8 (Sarcoplasmic Reticulum Calcium-Transporting ATPases) EC 7.2.2.10 (ATP2A2 protein, human) |
| تواريخ الأحداث: | Date Created: 20110702 Date Completed: 20120119 Latest Revision: 20190412 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1159/000328404 |
| PMID: | 21720150 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1421-9832 |
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| DOI: | 10.1159/000328404 |