ArticleJournal of human genetics2016
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 48 citations in OpenAlex.
- Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Article
- Article
- Genetics of Mitochondrial Aminoacyl-tRNA Synthetases Associated with Sensorineural Hearing Loss.Molecular syndromology · 2025Review
- Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.Neurogenetics · 2025Article
- Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.Molecular biology reports · 2024Article
- Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.BMC medical genomics · 2023Article
- Neonatal lactic acidosis explained by LARS2 defect.Pediatric research · 2023Article
- Recessive aminoacyl-tRNA synthetase disorders: lessons learned fromFrontiers in neuroscience · 2023Review
- Associations between forensic loci and expression levels of neighboring genes may compromise medical privacy.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Review
- New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.Human genetics · 2022Review
- Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.Scientific reports · 2022Article
- Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).Frontiers in endocrinology · 2021Review
- Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.Hereditas · 2020Article
- Perrault syndrome: Clinical report and retrospective analysis.Molecular genetics & genomic medicine · 2020Article
- Two Novel Pathogenic Variants ConfirmGenes · 2020Article
- LARS2-Perrault syndrome: a new case report and literature review.BMC medical genetics · 2020Review
- Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.Journal of translational medicine · 2019Article
- When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases.The Journal of biological chemistry · 2019Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Perrault syndrome (MIM #233400) is a rare autosomal recessive disorder characterized by ovarian dysgenesis and primary ovarian insufficiency in females, and progressive hearing loss in both genders. Recently, mutations in five genes (HSD17B4, HARS2, CLPP, LARS2 and C10ORF2) were found to be responsible for Perrault syndrome, although they do not account for all cases of this genetically heterogeneous condition. We used whole-exome sequencing to identify pathogenic variants responsible for Perrault syndrome in an Italian pedigree with two affected siblings. Both patients were compound heterozygous for two novel missense variants within the mitochondrial leucyl-tRNA synthetase (LARS2): NM_015340.3:c.899C>T(p.Thr300Met) and c.1912G>A(p.Glu638Lys). Both variants cosegregated with the phenotype in the family. p.Thr300 and p.Glu638 are evolutionarily conserved residues, and are located, respectively, within the editing domain and immediately before the catalytically important KMSKS motif. Homology modeling using as template the E. coli leucyl-tRNA synthetase provided further insights on the possible pathogenic effects of the identified variants. This represents the first independent replication of the involvement of LARS2 mutations in Perrault syndrome, contributing valuable information for the further understanding of this disease.
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