دورية أكاديمية
أعرض في EDS

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

التفاصيل البيبلوغرافية
العنوان: Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
المؤلفون: Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J, Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E, Kahler, Stephen G, McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank
المصدر: Nitschke, Yvonne; Baujat, Geneviève; Botschen, Ulrike; Wittkampf, Tanja; du Moulin, Marcel; Stella, Jacqueline; Le Merrer, Martine; Guest, Geneviève; Lambot, Karen; Tazarourte-Pinturier, Marie-Frederique; Chassaing, Nicolas; Roche, Olivier; Feenstra, Ilse; Loechner, Karen; Deshpande, Charu; Garber, Samuel J; Chikarmane, Rashmi; Steinmann, Beat; Shahinyan, Tatevik; Martorell, Loreto; Davies, Justin; Smith, Wendy E; Kahler, Stephen G; McCulloch, Mignon; Wraige, Elizabeth; Loidi, Lourdes; Höhne, Wolfgang; Martin, Ludovic; Hadj-Rabia, Smaïl; Terkeltaub, Robert; Rutsch, Frank (2012). Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. American Journal of Human Genetics, 90(1):25-39.
بيانات النشر: Cell Press (Elsevier)
سنة النشر: 2012
المجموعة: University of Zurich (UZH): ZORA (Zurich Open Repository and Archive
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
الوصف: Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive. We hypothesized that GACI and PXE are in a closely related spectrum of disease. We used a standardized questionnaire to retrospectively evaluate the phenotype of 92 probands with a clinical history of GACI. We obtained the ENPP1 genotype by conventional sequencing. In those patients with less than two disease-causing ENPP1 mutations, we sequenced ABCC6. We observed that three GACI patients who carried biallelic ENPP1 mutations developed typical signs of PXE between 5 and 8 years of age; these signs included angioid streaks and pseudoxanthomatous skin lesions. In 28 patients, no disease-causing ENPP1 mutation was found. In 14 of these patients, we detected pathogenic ABCC6 mutations (biallelic mutations in eight patients, monoallelic mutations in six patients). Thus, ABCC6 mutations account for a significant subset of GACI patients, and ENPP1 mutations can also be associated with PXE lesions in school-aged children. Based on the considerable overlap of genotype and phenotype of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than two distinct disorders. ABCC6 and ENPP1 mutations might lead to alterations of the same physiological pathways in tissues beyond the artery.
نوع الوثيقة: article in journal/newspaper
اللغة: English
تدمد: 0002-9297
العلاقة: https://www.zora.uzh.ch/73740Test; info:pmid/22209248; urn:issn:0002-9297
DOI: 10.1016/j.ajhg.2011.11.020
الإتاحة: https://doi.org/10.1016/j.ajhg.2011.11.020Test
https://www.zora.uzh.ch/id/eprint/73740Test/
https://www.zora.uzh.ch/73740Test
حقوق: info:eu-repo/semantics/closedAccess
رقم الانضمام: edsbas.25358EC7
قاعدة البيانات: BASE
الوصف
تدمد:00029297
DOI:10.1016/j.ajhg.2011.11.020