Features include always present findings: Premature ovarian insufficiency, Bilateral sensorineural hearing impairment, Mild intellectual disability, and Short stature and others; and common findings: Hypoglycemia, Primary amenorrhea, and Lactic acidosis. 18 total HPO annotations.

DAP3 encodes death associated protein 3 (398 aa). As a component of the mitochondrial small ribosomal subunit, it plays a role in the translation of mitochondrial mRNAs. Involved in mediating interferon-gamma-induced cell death. Highest expression in Cells EBV-transformed lymphocytes (70.7 TPM) and Cells Cultured fibroblasts (59.5 TPM).

Perrault syndrome 7 is associated with mutations in the DAP3 gene on chromosome 1.

DAP3 is classified as a druggable target with score 0.0.

Genetic testing for DAP3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 8 always present features, 3 common features.

No clinical trials have been registered for Perrault syndrome 7.

4 publications have been identified in PubMed for Perrault syndrome 7. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

• Lin Z (2026). [PMID: 41783587](https://pubmed.ncbi.nlm.nih.gov/41783587/). *Front Genet*. [Case Report / Case Series]

• Smith TB (2025). [PMID: 39701103](https://pubmed.ncbi.nlm.nih.gov/39701103/). *Am J Hum Genet*. [Basic Science / Preclinical]

• Elbagoury NM (2025). [PMID: 40858759](https://pubmed.ncbi.nlm.nih.gov/40858759/). *Eur J Pediatr*. [Review / Meta-Analysis]

• Domínguez-Ruiz M (2024). [PMID: 39062730](https://pubmed.ncbi.nlm.nih.gov/39062730/). *Genes (Basel)*. [Basic Science / Preclinical]