التفاصيل البيبلوغرافية
| العنوان: |
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis |
| المؤلفون: |
Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W., Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sánchez-Delgado, Jordi, Baena DÃez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B., Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sánchez-Fernández, Mayka |
| سنة النشر: |
2020 |
| المجموعة: |
Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB |
| مصطلحات موضوعية: |
Aceruloplasminemia, Ceruloplasmin, Iron metabolism, Neurodegenerative disease, Anemia, Ferritin |
| الوصف: |
Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. The disease is caused by mutations in the Ceruloplasmin (CP) gene that produce a strong reduction or absence of ceruloplasmin ferroxidase activity, leading to an impairment of iron metabolism. Most patients described so far are from Japan. Prompt diagnosis and therapy are crucial to prevent neurological complications since, once established, they are usually irreversible. Here, we describe the largest series of non-Japanese patients with aceruloplasminemia published so far, including 13 individuals from 11 families carrying 13 mutations in the CP gene (7 missense, 3 frameshifts, and 3 splicing mutations), 10 of which are novel. All missense mutations were studied by computational modeling. Clinical manifestations were heterogeneous, but anemia, often but not necessarily microcytic, was frequently the earliest one. This study confirms the clinical and genetic heterogeneity of aceruloplasminemia, a disease expected to be increasingly diagnosed in the Next-Generation Sequencing (NGS) era. Unexplained anemia with low transferrin saturation and high ferritin levels without inflammation should prompt the suspicion of aceruloplasminemia, which can be easily confirmed by low serum ceruloplasmin levels. Collaborative joint efforts are needed to better understand the pathophysiology of this potentially disabling disease. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
International journal of molecular sciences; Vol. 21 (march 2020); https://ddd.uab.cat/record/252526Test; urn:10.3390/ijms21072374; urn:oai:ddd.uab.cat:252526; urn:pmcid:PMC7178074; urn:pmc-uid:7178074; urn:pmid:32235485; urn:oai:pubmedcentral.nih.gov:7178074 |
| الإتاحة: |
https://ddd.uab.cat/record/252526Test |
| حقوق: |
open access ; Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.7FC39B5E |
| قاعدة البيانات: |
BASE |
