Version 1
: Received: 22 August 2020 / Approved: 24 August 2020 / Online: 24 August 2020 (03:10:45 CEST)
How to cite:
Vargas-Niño, A.; Rojas-Martinez, J.; Aivasovsky-Trotta, I.; Vergara-Cardenas, S.; Castellanos-Fernandez, M.; Prieto-Soler, C.; Celis-Regalado, L. Progressive Early Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. Preprints2020, 2020080502. https://doi.org/10.20944/preprints202008.0502.v1
Vargas-Niño, A.; Rojas-Martinez, J.; Aivasovsky-Trotta, I.; Vergara-Cardenas, S.; Castellanos-Fernandez, M.; Prieto-Soler, C.; Celis-Regalado, L. Progressive Early Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. Preprints 2020, 2020080502. https://doi.org/10.20944/preprints202008.0502.v1
Vargas-Niño, A.; Rojas-Martinez, J.; Aivasovsky-Trotta, I.; Vergara-Cardenas, S.; Castellanos-Fernandez, M.; Prieto-Soler, C.; Celis-Regalado, L. Progressive Early Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. Preprints2020, 2020080502. https://doi.org/10.20944/preprints202008.0502.v1
APA Style
Vargas-Niño, A., Rojas-Martinez, J., Aivasovsky-Trotta, I., Vergara-Cardenas, S., Castellanos-Fernandez, M., Prieto-Soler, C., & Celis-Regalado, L. (2020). Progressive Early Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. Preprints. https://doi.org/10.20944/preprints202008.0502.v1
Chicago/Turabian Style
Vargas-Niño, A., Carolina Prieto-Soler and Luis Celis-Regalado. 2020 "Progressive Early Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America" Preprints. https://doi.org/10.20944/preprints202008.0502.v1
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.