Journal article

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Lisa G Riley, Matthew M Heeney, Joelle Rudinger-Thirion, Magali Frugier, Dean R Campagna, Ronghao Zhou, Gregory A Hale, Lee M Hilliard, Joel A Kaplan, Janet L Kwiatkowski, Colin A Sieff, David P Steensma, Alexander J Rennings, Annet Simons, Nicolaas Schaap, Richard J Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torro, Rasha Ahmed Show all

HAEMATOLOGICA | FERRATA STORTI FOUNDATION | Published : 2018

Abstract

YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA for mitochondrial protein synthesis. Here we describe 14 individuals from 11 families presenting with sideroblastic anemia and YARS2 variants that we identified using a sideroblastic anemia gene panel or exome sequencing. The phenotype of these patients ranged from MLASA to isolated congenital sideroblastic anemia. As in previous cases, inter- and intra-familial phenotypic variability was observed, however, this report includes the first cases ..

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Grants

Awarded by Australian NHMRC


Awarded by NIH


Awarded by Spanish Secretary of Research, Development and Innovation (MINECO)


Awarded by Deutsche Jose Carreras Leukamie Stiftung


Awarded by Generalitat de Catalunya


Awarded by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES


Funding Acknowledgements

This research was supported by Australian NHMRC grant 1026891 to JC, NIH DK087992 to MDF, and grants SAF2015-70412-R from the Spanish Secretary of Research, Development and Innovation (MINECO), DJCLS R14/04 from Deutsche Jose Carreras Leukamie Stiftung, 2014 SGR225 (GRE) from Generalitat de Catalunya and economical support from Fundacio Internacional Josep Carreras and from Obra Social "la Caixa" Spain to MS.