Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Progressive Early Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America

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. Preprints 2020, 2020080502 (doi: 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 (doi: 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.

Subject Areas

KARS gene; aminoacylation; leucodistrophy; epilepsy; hearing loss developmental delay; whole exome sequencing

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