DEAF1 encodes DEAF1 transcription factor (565 aa). Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Highest expression in Brain Anterior cingulate cortex BA24 (98.3 TPM) and Brain Cerebellar Hemisphere (95.9 TPM).

Intellectual disability, autosomal dominant 24 is associated with mutations in the DEAF1 gene on chromosome 11.

DEAF1 is classified as a druggable target (Druggable Genome and Transcription Factor categories) with score 0.0.

Genetic testing for DEAF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 24 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 15 common features.

No clinical trials have been registered for intellectual disability, autosomal dominant 24.

24 publications have been identified in PubMed for intellectual disability, autosomal dominant 24. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (14%).

Recent Publications

• Aldurayhim F (2026). [PMID: 42057324](https://pubmed.ncbi.nlm.nih.gov/42057324/). *Am J Med Genet A*. [Gene Therapy / Novel Therapeutics]

• Katz K (2026). [PMID: 41518091](https://pubmed.ncbi.nlm.nih.gov/41518091/). *Am J Med Genet A*. [Case Report / Case Series]

• Benvenuto M (2026). [PMID: 40977432](https://pubmed.ncbi.nlm.nih.gov/40977432/). *Am J Med Genet A*. [Case Report / Case Series]

• Kayhan G (2026). [PMID: 41751633](https://pubmed.ncbi.nlm.nih.gov/41751633/). *Genes (Basel)*. [Epidemiology / Natural History]

• Musante L (2026). [PMID: 41709284](https://pubmed.ncbi.nlm.nih.gov/41709284/). *Genome Med*. [Basic Science / Preclinical]

• Zhang Y (2026). [PMID: 41668056](https://pubmed.ncbi.nlm.nih.gov/41668056/). *BMC Oral Health*. [Case Report / Case Series]

• Krutish A (2025). [PMID: 40458561](https://pubmed.ncbi.nlm.nih.gov/40458561/). *Front Genet*. [Case Report / Case Series]

• Elander J (2025). [PMID: 40685639](https://pubmed.ncbi.nlm.nih.gov/40685639/). *J Otolaryngol Head Neck Surg*. [Diagnostic / Biomarker]

• Yu QX (2025). [PMID: 40563199](https://pubmed.ncbi.nlm.nih.gov/40563199/). *Prenat Diagn*. [Case Report / Case Series]

• Aspromonte MC (2025). [PMID: 40019509](https://pubmed.ncbi.nlm.nih.gov/40019509/). *Hum Genet*. [Review / Meta-Analysis]