Features include always present findings: Woolly hair and Global developmental delay; and common findings: Long philtrum, Delayed CNS myelination, Sparse eyebrow, and Sparse hair and others.

AARS1 encodes alanyl-tRNA synthetase 1 (968 aa). Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Highest expression in Cells EBV-transformed lymphocytes (212.7 TPM) and Cells Cultured fibroblasts (191.4 TPM).

Trichothiodystrophy 8, nonphotosensitive is associated with mutations in the AARS1 gene on chromosome 16.

AARS1 is classified as a druggable target (Enzyme category) with score 0.6.

90 pathogenic variants reported in AARS1 in ClinVar, including hotspot variant LRG_359p1:p.Arg329His (2-star review).

Genetic testing for AARS1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 22 common features.

No clinical trials have been registered for trichothiodystrophy 8, nonphotosensitive.

2 publications have been identified in PubMed for trichothiodystrophy 8, nonphotosensitive. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Zhang H (2025). [PMID: 39487674](https://pubmed.ncbi.nlm.nih.gov/39487674/). *IUBMB life*. [Review / Meta-Analysis]

• Pascolini G (2024). [PMID: 39118464](https://pubmed.ncbi.nlm.nih.gov/39118464/). *Molecular genetics & genomic medicine*. [Epidemiology / Natural History]