Features include always present findings: Severe short stature, Premature ovarian insufficiency, Hearing loss (hearing impairment), and Defective DNA repair after ultraviolet radiation damage and others. 35 total HPO annotations.

ERCC4 encodes ERCC excision repair 4, endonuclease catalytic subunit (916 aa). Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand ... Highest expression in Testis (13.8 TPM) and Cells Cultured fibroblasts (6.2 TPM).

XFE progeroid syndrome is associated with mutations in the ERCC4 gene on chromosome 16.

The ERCC4 protein participates in 5'- incision of DNA by ERCC1:ERCC4 in GG-NER and 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER pathways.

ERCC4 is classified as a druggable target (Clinically Actionable and Dna Repair categories) with score 6.5.

Genetic testing for ERCC4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 34 always present features.

No clinical trials have been registered for XFE progeroid syndrome.

1 publication has been identified in PubMed for XFE progeroid syndrome. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Narasimhan A (2025). [PMID: 39604117](https://pubmed.ncbi.nlm.nih.gov/39604117/). *Aging Cell*. [Basic Science / Preclinical]