Resumo

BENDECK, Joanna L.; VILLAMIZAR, Ives; PRIETO, Carolina  e  CELIS, Luis G.. Autosomal recessive heterocygote mutation of the RARS2 gene in a colombian patient with non- consanguineous parents. Arch. argent. pediatr. [online]. 2022, vol.120, n.1, pp.161-170.  Epub 01-Fev-2022. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2022.e39.

The latest method of next-generation sequencing has allowed the characterization and identification of genetic variants associated to diverse pathologies. In this article, we present the case of female patient with a mutation of the RARS2 gene that encodes the enzyme for arginyl tRNA synthetase for coding of proteins. This genetic alteration manifests in pontocerebellar hypoplasia type 6, with a prevalence of <1/1,000,0000, characterized by a cerebellum and pons that are smaller in size and are associated with severe neurodevelopmental delay. The analysis of the case of this patient provides better knowledge of diseases of genetic origin; specifically, regarding genetic diseases of autosomal recessive patterns of inheritance from non-consanguineous parents. The impact of these studies; specially within the family, social, economic and genetic aspects helps provide a better quality of life for these patients and their family.

Palavras-chave : RARS2 gene; arginine-tRNA ligase; olivopontocerebellar atrophies; heredity; genetics.

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