Vargas, A.; Rojas, J.; Aivasovsky, I.; Vergara, S.; Castellanos, M.; Prieto, C.; Celis, L. Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. Genes 2020, 11, 1437, doi:10.3390/genes11121437.
Vargas, A.; Rojas, J.; Aivasovsky, I.; Vergara, S.; Castellanos, M.; Prieto, C.; Celis, L. Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. Genes 2020, 11, 1437, doi:10.3390/genes11121437.
Vargas, A.; Rojas, J.; Aivasovsky, I.; Vergara, S.; Castellanos, M.; Prieto, C.; Celis, L. Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. Genes 2020, 11, 1437, doi:10.3390/genes11121437.
Vargas, A.; Rojas, J.; Aivasovsky, I.; Vergara, S.; Castellanos, M.; Prieto, C.; Celis, L. Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. Genes 2020, 11, 1437, doi:10.3390/genes11121437.
Abstract
The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS) which activates and joins the lysin with its corresponding transfer RNA (tRNA), through the ATP-dependent aminoacylation of the amino acid. The KARS gene mutations have been linked to diverse neurologic phenotypes such as: neurosensorial hearing loss, leukodistrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, impairment of the mitochondrial respiratory chain, hyperlactatemia, among others. This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene.
Biology and Life Sciences, Biochemistry and Molecular Biology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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