Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription - PubMed
4 hours ago
- #SUPT4H1
- #neurodevelopmental disorder
- #transcription disruption
- Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder.
- Clinical features include intellectual disability, dystonia, speech impairment, craniofacial dysmorphism, skeletal anomalies, and enamel hypoplasia.
- Functional modeling in C. elegans confirmed pathogenicity through neuromotor deficits.
- Multi-omics analyses revealed dysregulation of developmental gene networks and transcriptional machinery.
- Dopamine treatment improved motor symptoms and normalized neurotransmitter levels in affected siblings.
- The study highlights the role of disrupted transcription in human disease.