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Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.
Features include always present findings: Progressive sensorineural hearing impairment; and very common findings: Increased circulating gonadotropin level. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Gait ataxia, Difficulty with thinking and memory (cognitive impairment) |
LARS2 encodes leucyl-tRNA synthetase 2, mitochondrial (903 aa). Catalyzes the attachment of leucine to its cognate tRNA Highest expression in Cells EBV-transformed lymphocytes (22.1 TPM) and Cells Cultured fibroblasts (20.3 TPM).
Perrault syndrome 4 is associated with mutations in the LARS2 gene on chromosome 3.
LARS2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.
Genetic testing for LARS2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 common features.
No clinical trials have been registered for Perrault syndrome 4.
14 publications have been identified in PubMed for Perrault syndrome 4. Research spans Basic Science / Preclinical (46%), Case Report / Case Series (38%), and Other (8%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 6 | 46% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Perrault syndrome 4
Hormones
2 |
Secondary amenorrhea, Primary amenorrhea |
Head and neck | 1 | Cleft palate |
Eyes | 1 | Strabismus |
Bones and joints | 1 | Weak and brittle bones (osteoporosis) |
Ears | 1 | Progressive sensorineural hearing impairment |
Growth and development | 1 | Disproportionate tall stature |
Age of onset: childhood.
5 |
38% |
Other research | 1 | 8% |
Research summaries | 1 | 8% |
Wu SL (2026). [PMID: 41722370](https://pubmed.ncbi.nlm.nih.gov/41722370/). *Stem Cell Res*. [Case Report / Case Series]
Lai KL (2026). [PMID: 41772230](https://pubmed.ncbi.nlm.nih.gov/41772230/). *Neurogenetics*. [Other]
Ahmad N (2026). [PMID: 41525964](https://pubmed.ncbi.nlm.nih.gov/41525964/). *Clin Chim Acta*. [Case Report / Case Series]
Finsterer J (2026). [PMID: 42077717](https://pubmed.ncbi.nlm.nih.gov/42077717/). *Cureus*. [Case Report / Case Series]
Lin Z (2026). [PMID: 41783587](https://pubmed.ncbi.nlm.nih.gov/41783587/). *Front Genet*. [Basic Science / Preclinical]
Long X (2025). [PMID: 40410890](https://pubmed.ncbi.nlm.nih.gov/40410890/). *Hum Genomics*. [Basic Science / Preclinical]
Adam AP (2025). [PMID: 40119736](https://pubmed.ncbi.nlm.nih.gov/40119736/). *Am J Med Genet A*. [Case Report / Case Series]
Thomas HB (2025). [PMID: 40043708](https://pubmed.ncbi.nlm.nih.gov/40043708/). *Am J Hum Genet*. [Basic Science / Preclinical]
Lu M (2025). [PMID: 39762667](https://pubmed.ncbi.nlm.nih.gov/39762667/). *Neurogenetics*. [Basic Science / Preclinical]
Tufatulin GS (2025). [PMID: 39936838](https://pubmed.ncbi.nlm.nih.gov/39936838/). *J Int Adv Otol*. [Review / Meta-Analysis]