ArticleEuropean journal of human genetics : EJHG2023
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.Frontiers in endocrinology · 2023Pooled it
- Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Traumatic brain injury impact on normal hearing.Chinese journal of traumatology = Zhonghua chuang shang za zhi · 2026Review
- RNA exosome component EXOSC10 variants identified in a patient with premature ovarian insufficiency†.Biology of reproduction · 2026Article
- Article
- Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.Frontiers in genetics · 2026Article
- SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.Human reproduction (Oxford, England) · 2025Article
- In Vitro Fertilization Accelerates Female Reproductive Aging Through Early Ovarian Failure.bioRxiv : the preprint server for biology · 2025Article
- Intermittent Hypoxia Induces Cognitive Dysfunction and Hippocampal Gene Expression Changes in a Mouse Model of Obstructive Sleep Apnea.International journal of molecular sciences · 2025Article
- Mammalian oocytes receive maternal-effect RNAs from granulosa cells.bioRxiv : the preprint server for biology · 2025Article
- Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.Neurogenetics · 2025Article
- Premature ovarian insufficiency.Nature reviews. Disease primers · 2024Review
- 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
- Review
- 2023 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2024Article
- A Subpathway and Target Gene Cluster-Based Approach Uncovers lncRNAs Associated with Human Primordial Follicle Activation.International journal of molecular sciences · 2023Article
- An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey.European journal of human genetics : EJHG · 2023Article
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14 authors at 7 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants can cause POI, with these explaining only a minority of cases. Whole exome sequencing (WES) can be a useful tool for POI patient management, allowing clinical care to be personalized to underlying cause. We performed WES to investigate two French sisters, whose only clinical complaint was POI. Surprisingly, they shared one known and one novel likely pathogenic variant in the Perrault syndrome gene, LARS2. Using amino-acylation studies, we established that the novel missense variant significantly impairs LARS2 function. Perrault syndrome is characterized by sensorineural hearing loss in addition to POI. This molecular diagnosis alerted the sisters to the significance of their difficulty in following conversation. Subsequent audiology assessment revealed a mild bilateral hearing loss. We describe the first cases presenting with perceived isolated POI and causative variants in a Perrault syndrome gene. Our study expands the phenotypic spectrum associated with LARS2 variants and highlights the clinical benefit of having a genetic diagnosis, with prediction of potential co-morbidity and prompt and appropriate medical care, in this case by an audiologist for early detection of hearing loss.
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