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2019-04-17

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cc by (c) Arias Salgado et al., 2019
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/171589

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

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https://doi.org/10.1186/s13023-019-1046-0

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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.

Matèries

Fibrosi pulmonar, Anèmia

Matèries (anglès)

Pulmonary fibrosis, Anemia

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

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. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes. _Orphanet Journal of Rare Diseases_. 2019. Vol. 14. [consulta: 20 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/171589]

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