First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.

Bandini, Perla; Borràs, Nina; Fernández Mellid, Eugenia; Martin-Fernandez, Laura; Melero Valentín, Paula; Comes, Natalia; Ramírez, Lorena; Cadahia Fernández, Patricia; Rodríguez Ruiz, Matilde; Pérez Encinas, Manuel Mateo; Vidal, Francisco; Corrales, Irene
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URI: http://hdl.handle.net/20.500.11940/22265
PMID: 37696499
ESSN: 1365-2141
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Date issued
2023-11
Journal title
British journal of haematology
Type of content
Artigo
DeCS
mutación | anemia | Trastornos de Fallo de la Médula Ósea
MeSH
Mutation | Bone Marrow Failure Disorders | Anemia
CIE
Anemia aplástica constitucional
Abstract
Inherited bone marrow failure syndromes (BMFS) are a heterogeneous group of disorders characterized by trilineage peripheral blood cytopenias, often presenting during infancy. Currently, more than 100 genes, including ERCC6L2, have been associated with BMFS. In conclusion, we report the first description of BM aplasia caused by ERCC6L2 variants in Spain and the fifth family with BMFS-2 caused by compound heterozygous variants in ERCC6L2