Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment), Amenorrhea, and Streak ovary.

HARS2 encodes histidyl-tRNA synthetase 2, mitochondrial (506 aa). Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP) Highest expression in Brain Cerebellar Hemisphere (60.5 TPM) and Brain Cerebellum (58.0 TPM).

Perrault syndrome 2 has limited evidence linking it to mutations in the HARS2 gene on chromosome 5.

HARS2 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for HARS2 is available. Testing is considered research-grade for diagnosis.

Phenotype severity distribution: 3 always present features.

No clinical trials have been registered for Perrault syndrome 2.

9 publications have been identified in PubMed for Perrault syndrome 2. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (38%), and Epidemiology / Natural History (13%).

Recent Publications

• Ahmad N (2026). [PMID: 41525964](https://pubmed.ncbi.nlm.nih.gov/41525964/). *Clin Chim Acta*. [Case Report / Case Series]

• Lin Z (2026). [PMID: 41783587](https://pubmed.ncbi.nlm.nih.gov/41783587/). *Front Genet*. [Basic Science / Preclinical]

• Finsterer J (2026). [PMID: 42077717](https://pubmed.ncbi.nlm.nih.gov/42077717/). *Cureus*. [Case Report / Case Series]

• Long X (2025). [PMID: 40410890](https://pubmed.ncbi.nlm.nih.gov/40410890/). *Hum Genomics*. [Epidemiology / Natural History]

• Alkhonezan M (2024). [PMID: 39498437](https://pubmed.ncbi.nlm.nih.gov/39498437/). *Clin Case Rep*. [Case Report / Case Series]

• Thomas HB (2024). [PMID: 39417135](https://pubmed.ncbi.nlm.nih.gov/39417135/). *medRxiv*. [Basic Science / Preclinical]