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Myopathy, lactic acidosis, and sideroblastic anemia 3(MLASA3)

MedGen UID:
903059
•Concept ID:
C4225415
•
Disease or Syndrome
Synonym: MLASA3
 
Monarch Initiative: MONDO:0010782
OMIM®: 500011

Definition

MLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by Burrage et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462). [from OMIM]

Recent clinical studies

Etiology

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.
Kothari SS, Shah J, Sharma V, Charaniya R, Parikh R, Vaniawala SN
BMC Med Genomics 2024 Aug 15;17(1):213. doi: 10.1186/s12920-024-01983-8. PMID: 39148116Free PMC Article
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM
Am J Med Genet A 2022 Jul;188(7):2226-2230. Epub 2022 Apr 8 doi: 10.1002/ajmg.a.62755. PMID: 35393742Free PMC Article
Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients.
Zehravi M, Wahid M, Ashraf J, Fatima T
Genet Test Mol Biomarkers 2021 Mar;25(3):218-226. doi: 10.1089/gtmb.2020.0246. PMID: 33734897
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R
Clin Genet 2017 Mar;91(3):441-447. Epub 2016 May 25 doi: 10.1111/cge.12790. PMID: 27102574

Diagnosis

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM
Am J Med Genet A 2022 Jul;188(7):2226-2230. Epub 2022 Apr 8 doi: 10.1002/ajmg.a.62755. PMID: 35393742Free PMC Article
Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients.
Zehravi M, Wahid M, Ashraf J, Fatima T
Genet Test Mol Biomarkers 2021 Mar;25(3):218-226. doi: 10.1089/gtmb.2020.0246. PMID: 33734897
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.
Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F
Mol Genet Metab 2014 Nov;113(3):207-12. Epub 2014 Jun 30 doi: 10.1016/j.ymgme.2014.06.004. PMID: 25037980Free PMC Article

Prognosis

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M
J Med Genet 2007 Mar;44(3):173-80. Epub 2006 Oct 20 doi: 10.1136/jmg.2006.045252. PMID: 17056637Free PMC Article

Clinical prediction guides

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.
Kothari SS, Shah J, Sharma V, Charaniya R, Parikh R, Vaniawala SN
BMC Med Genomics 2024 Aug 15;17(1):213. doi: 10.1186/s12920-024-01983-8. PMID: 39148116Free PMC Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M
J Med Genet 2007 Mar;44(3):173-80. Epub 2006 Oct 20 doi: 10.1136/jmg.2006.045252. PMID: 17056637Free PMC Article
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome.
Inbal A, Avissar N, Shaklai M, Kuritzky A, Schejter A, Ben-David E, Shanske S, Garty BZ
Am J Med Genet 1995 Jan 30;55(3):372-8. doi: 10.1002/ajmg.1320550325. PMID: 7726239

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    • ClinVar
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      Clinical tests in GTR
    • OMIM
      Related records in OMIM
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      Related information in PubMed Central Links
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