Accepted Publication in Haematologica Journal (impact factor: 9.090) with contribution from BLOODGENETICS

The manuscript: “The phenotypic spectrum of germline YARS2 variants: from sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2” by Lisa G. Riley and colleagues has recently been accepted in the prestigious journal Haematologica. This work is a collaboration of researchers and medical doctors from 6 countries (Australia, France, Lebanon, Spain, The Netherlands and USA) where BLOODGENETICS and Hospital de Mar (IMIM) has participated. This study shows that biallelic variants of the YARS2 gene, including severe loss-of-function alleles in trans of the common p.(Gly191Val) variant, should be considered as a cause of isolated congenital sideroblastic anemia, as well as the MLASA2 syndromic phenotype.