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

2020 ◽  
Author(s):  
Adriana Vargas-Niño ◽  
Jorge Rojas-Martinez ◽  
Ivan Aivasovsky-Trotta ◽  
Sergio Vergara-Cardenas ◽  
Marianna Castellanos-Fernandez ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Mitochondrial Respiratory Chain ◽  
Trna Synthetase ◽  
Transfer Rna ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Aminoacyl Trna Synthetase ◽  
First Case ◽  
Compound Heterozygous State

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.

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

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1437
Author(s):  
Adriana Vargas ◽  
Jorge Rojas ◽  
Ivan Aivasovsky ◽  
Sergio Vergara ◽  
Marianna Castellanos ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Mitochondrial Respiratory Chain ◽  
Trna Synthetase ◽  
Transfer Rna ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Aminoacyl Trna Synthetase ◽  
First Case ◽  
Compound Heterozygous State

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins lysine with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. KARS gene mutations have been linked to diverse neurologic phenotypes, such as neurosensorial hearing loss, leukodystrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, the impairment of the mitochondrial respiratory chain, and 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 and, in addition to the case report, the paper reviews the literature for other cases of KARS1-associated leukodystrophy.

scholarly journals Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

PLoS ONE ◽  
2017 ◽  
Vol 12 (6) ◽  
pp. e0178125 ◽  
Author(s):  
Michael Nafisinia ◽  
Lisa G. Riley ◽  
Wendy A. Gold ◽  
Kaustuv Bhattacharya ◽  
Carolyn R. Broderick ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Trna Synthetase ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations ◽  
Mitochondrial Respiratory

scholarly journals Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss

2009 ◽  
Vol 63 (4-5) ◽  
pp. 198-203
Author(s):  
Olga Šterna ◽  
Natālija Proņina ◽  
Ieva Grīnfelde ◽  
Sandra Kušķe ◽  
Astrīda Krūmiņa ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
Profound Hearing Loss ◽  
Common Cause ◽  
Gjb2 Mutation ◽  
35Delg Mutation

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

scholarly journals Amino Acid-dependent Transfer RNA Affinity in a Class I Aminoacyl-tRNA Synthetase

2005 ◽  
Vol 280 (25) ◽  
pp. 23966-23977 ◽  
Author(s):  
Nathan T. Uter ◽  
Ita Gruic-Sovulj ◽  
John J. Perona
Keyword(s):  
Amino Acid ◽  
Trna Synthetase ◽  
Transfer Rna ◽  
Class I ◽  
Aminoacyl Trna Synthetase

Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 142S-147S ◽  
Author(s):  
Aya Ichinose ◽  
Hideaki Moteki ◽  
Mitsuru Hattori ◽  
Shin-ya Nishio ◽  
Shin-ichi Usami
Keyword(s):  
Hearing Loss ◽  
Massively Parallel Sequencing ◽  
Autosomal Recessive Inheritance ◽  
Japanese Patients ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Coding Region ◽  
Novel Mutations ◽  
First Case

Objective: We present a patient who was identified with novel mutations in the LRTOMT gene and describe the clinical features of the phenotype including serial audiological findings. Methods: One hundred six Japanese patients with mild to moderate sensorineural hearing loss from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss. Results: Compound heterozygotes with a novel frame-shift mutation and a missense mutation were identified in the LRTOMT gene. The mutated residues were segregated in both alleles of LRTOMT, present within the LRTOMT2 protein coding region. The patient had moderate sloping hearing loss at high frequencies, which progressed at 1000 Hz and higher frequencies over a period of 6 years. Conclusion: Hearing loss caused by mutations in the LRTOMT gene is extremely rare. This is the first case report of a compound heterozygous mutation in a nonconsanguineous family.

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: Molecular dynamics and biochemical studies

2014 ◽  
Vol 52 (1) ◽  
pp. 27-34 ◽  
Author(s):  
Christine Cézard ◽  
Amrathlal Rabbind Singh ◽  
Gérald Le Gac ◽  
Isabelle Gourlaouen ◽  
Claude Ferec ◽  
...  
Keyword(s):  
Molecular Dynamics ◽  
Phenotypic Expression ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Biochemical Studies ◽  
Compound Heterozygous State
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