AARS2

AARS2

AARS2 is a gene that codes for alanyl-tRNA synthetase 2, an enzyme involved in the transfer of amino acids to tRNA molecules in mitochondria. Pathogenic variants in this gene have been linked to the development of mitochondrial diseases such as progressive leukoencephalopathy and ovarian failure, as well as axonal spheroids and pigmented glia.From: Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene [2018]

Clinical Manifestation of Mitochondrial Disorders in Childhood

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Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019

Martin Magner

The most frequent cardiac manifestation is cardiomyopathy with minimal occurence of 20–30% of children with mitochondrial disorder (Yaplito-Lee et al., 2007). This frequency varies over age, being more frequent in neonatal and paediatric patients (40% out of 120 neonates in the study of Honzik et al., 2012, 58% in 113 children in the study of Scaglia et al., 2004) than in adults with various mtDNA or nDNA mutations (cardiac involvement in 30% out of 260 patients in the study of Wahbi et al., 2015). The most common is a hypertrophic cardiomyopathy (Lev et al., 2004; Yaplito-Lee et al., 2007; Bates et al., 2012), when up to 60% of patients can manifest with this particular cardiomyopathy form (Scaglia et al., 2004). Other cardiomyopathies include dilated, restrictive, histiocytoid or unclassified cardiomyopathy, or Takotsubo syndrome (Finsterer and Kothari, 2014). The differential diagnosis of cardiomyopathy as a hallmark of the disease is very broad includes TMEM70, Barth syndrome, Sengers syndrome, SCO2, AARS2, AIFM, TK2, DNAJC19, and many others.

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene

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Published in Ophthalmic Genetics, 2018

Jason H. Peragallo, Stephanie Keller, Marjo S. van der Knaap, Bruno P. Soares, Suma P. Shankar

Functional studies in the future or additional cases with similar genotype and phenotype would reinforce the pathogenicity of these variants as the likely cause of the retinopathy and optic atrophy in our patient. This patient expands the phenotypic spectrum of AARS2 gene pathogenic variants.

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Clinical Manifestation of Mitochondrial Disorders in Childhood

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene