Biallelic Mutations in the Gene Presenting As Congenital Sideroblastic Anemia

Overview

Journal Haematologica

Specialty Hematology

Date 2021 Aug 19

PMID 34407605

Citations 2

Authors

Elia Colin

Genevieve Courtois

Chantal Brouzes

Juliette Pulman

Marion Rabant

Agnes Rotig

Helene Taffin

Mathilde Lion-Lambert

Sylvie Fabrega

Lydie Da Costa

Mariane De Montalembert

Remi Salomon

Olivier Hermine

Lucile Couronne

Affiliations

Soon will be listed here.

Citing Articles

A novel and apparent missense variant associated with congenital sideroblastic anemia.

Cai J, Liu T, Huang Y, Chen H, Yu M, Zhang D Front Pediatr. 2024; 12:1411676.

PMID: 39281190 PMC: 11394181. DOI: 10.3389/fped.2024.1411676.

Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.

Yu T, Zhang Y, Zheng W, Wu S, Li G, Zhang Y Nucleic Acids Res. 2022; 50(20):11755-11774.

PMID: 36350636 PMC: 9723649. DOI: 10.1093/nar/gkac1028.

References

Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S . Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Am J Hum Genet. 2011; 88(2):193-200. PMC: 3035710. DOI: 10.1016/j.ajhg.2010.12.010. View

Diodato D, Ghezzi D, Tiranti V . The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes. Int J Cell Biol. 2014; 2014:787956. PMC: 3932222. DOI: 10.1155/2014/787956. View

Long Z, Li H, Du Y, Han B . Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology. Gene. 2018; 668:182-189. DOI: 10.1016/j.gene.2018.05.074. View

Ducamp S, Fleming M . The molecular genetics of sideroblastic anemia. Blood. 2018; 133(1):59-69. PMC: 6318428. DOI: 10.1182/blood-2018-08-815951. View

Riley L, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A . Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. Am J Hum Genet. 2010; 87(1):52-9. PMC: 2896778. DOI: 10.1016/j.ajhg.2010.06.001. View

Testa U . Apoptotic mechanisms in the control of erythropoiesis. Leukemia. 2004; 18(7):1176-99. DOI: 10.1038/sj.leu.2403383. View

El-Hattab A, Scaglia F . Mitochondrial cytopathies. Cell Calcium. 2016; 60(3):199-206. DOI: 10.1016/j.ceca.2016.03.003. View

Fontenay M, Cathelin S, Amiot M, Gyan E, Solary E . Mitochondria in hematopoiesis and hematological diseases. Oncogene. 2006; 25(34):4757-67. DOI: 10.1038/sj.onc.1209606. View

Zhou Y, Zhong C, Yang Q, Zhang G, Yang H, Li Q . Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome. Mol Genet Genomic Med. 2021; 9(4):e1650. PMC: 8123761. DOI: 10.1002/mgg3.1650. View

10.

Riley L, Rudinger-Thirion J, Schmitz-Abe K, Thorburn D, Davis R, Teo J . LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Rep. 2015; 28:49-57. PMC: 5059179. DOI: 10.1007/8904_2015_515. View

11.

He B, Liao L, Deng Z, Tao Y, Xu Y, Lin F . Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives. Acta Haematol. 2018; 139(1):60-66. DOI: 10.1159/000486229. View

12.

Rivera H, Martin-Hernandez E, Delmiro A, Garcia-Silva M, Quijada-Fraile P, Muley R . A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. BMC Nephrol. 2013; 14:195. PMC: 3847196. DOI: 10.1186/1471-2369-14-195. View

13.

Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C . Biallelic mutations presenting as sideroblastic anemia. Haematologica. 2020; 106(4):1220-1225. PMC: 8018106. DOI: 10.3324/haematol.2020.270710. View

14.

Linnankivi T, Neupane N, Richter U, Isohanni P, Tyynismaa H . Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome. Hum Mutat. 2016; 37(9):884-8. DOI: 10.1002/humu.23021. View