PhenomeGene — Human Disease Gene Website SeriesRARS2

Publications

Edvardson S et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 2007 Oct;81(4):857-62. PMID: 17847012.

Rankin J et al. Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.Am J Med Genet A. 2010 Aug;152A(8):2079-84. PMID: 20635367.

Li Z et al. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul;60(7):363-9. PMID: 25809939.

Nevanlinna V et al. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.Eur J Med Genet. 2020 Mar;63(3):103766. PMID: 31536827.

de Valles-Ibáñez G et al. Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.Epilepsia Open. 2022 Mar;7(1):170-180. PMID: 34717047

Yahya V et al. Soft cerebellar signs unveil RARS2-related epilepsy. Epileptic Disord. 2024 Aug;26(4):540-543. PMID: 38733322.