Features include always present findings: Microcephaly, Short stature, Global developmental delay, and Convex nasal ridge and others; and common findings: Kyphoscoliosis, Spinal cord compression, and Ectopic kidney.

DNA2 encodes DNA replication helicase/nuclease 2 (1,060 aa). Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Highest expression in Cells EBV-transformed lymphocytes (19.3 TPM) and Brain Cerebellum (6.4 TPM).

Seckel syndrome 8 is associated with mutations in the DNA2 gene on chromosome 10.

The DNA2 protein participates in Recruitment of Dna2 endonuclease, Recruitment of DNA2 endonuclease to the C strand, and Removal of RNA primer and dissociation of RPA and Dna2 pathways.

DNA2 is classified as a druggable target (Enzyme category) with score 13.1.

Genetic testing for DNA2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 3 common features.

No clinical trials have been registered for Seckel syndrome 8.

2 publications have been identified in PubMed for Seckel syndrome 8. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Hudson JJR (2025). [PMID: 40903580](https://pubmed.ncbi.nlm.nih.gov/40903580/). *Nature*. [Basic Science / Preclinical]

• Liu Y (2024). [PMID: 38802339](https://pubmed.ncbi.nlm.nih.gov/38802339/). *Cell Death Discov*. [Basic Science / Preclinical]