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Title: | Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes |
Author: | Arias Salgado, Elena G. Galvez, Eva M. Planas Cerezales, Lurdes Pintado Berninches, Laura Vallespin, Elena Martínez, Pilar Carrillo, Jaime Iarriccio, Laura Ruiz Llobet, Anna Catalá, Albert Badell Serra, Isabel González Granado, Luis Ignacio Martín Nalda, Andrea Martínez Gallo, Mónica Galera Miñarro, Ana Rodríguez Vigil, Carmen Bastos Oreiro, Mariana Perez de Nanclares, Guiomar Leiro Fernández, Virginia Uria, Maria Luz Diaz Heredia, Cristina Valenzuela, Claudia Martín, Sara López Muñiz, Belén Lapunzina, Pablo Sevilla, Julian Molina Molina, María Perona, Rosario Sastre, Lenadro |
Keywords: | Fibrosi pulmonar Anèmia Pulmonary fibrosis Anemia |
Issue Date: | 17-Apr-2019 |
Publisher: | BioMed Central |
Abstract: | Background: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. The genetic origin of these diseases is heterogeneous and has not been determined for a significant proportion of patients. Methods: This article describes the genetic characterization of a cohort of patients. Telomere length was determined by Southern blot and quantitative PCR. Nucleotide variants were analyzed either by high-resolution melting analysis and Sanger sequencing of selected exons or by massive sequencing of a panel of genes. Results: Forty-seven patients with telomere length below the 10% of normal population, affected with three telomeropathies: dyskeratosis congenita (4), aplastic anemia (22) or pulmonary fibrosis (21) were analyzed. Eighteen of these patients presented known pathogenic or novel possibly pathogenic variants in the telomere-related genes TERT, TERC, RTEL1, CTC1 and ACD. In addition, the analyses of a panel of 188 genes related to haematological disorders indicated that a relevant proportion of the patients (up to 35%) presented rare variants in genes related to DNA repair or in genes coding for proteins involved in the resolution of complex DNA structures, that participate in telomere replication. Mutations in some of these genes are causative of several syndromes previously associated to telomere shortening. |
Note: | Reproducció del document publicat a: https://doi.org/10.1186/s13023-019-1046-0 |
It is part of: | Orphanet Journal of Rare Diseases, 2019, vol. 14 |
URI: | http://hdl.handle.net/2445/171589 |
Related resource: | https://doi.org/10.1186/s13023-019-1046-0 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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Arias-SalgadoEG.pdf | 3.33 MB | Adobe PDF | View/Open |
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