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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
Planas Cerezales, Lurdes
Pintado Berninches, Laura
Vallespin, Elena
Martínez, Pilar
Carrillo, Jaime
Iarriccio, Laura
Ruiz Llobet, Anna
Catalá, Albert
Badell Serra, Isabel
Gonzalez Granado, Luis I.
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
Pulmonary fibrosis
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:
It is part of: Orphanet Journal of Rare Diseases, 2019, vol. 14
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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