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| Mendeliome v1.4818 | SUPT4H1 |
Sarah Milton gene: SUPT4H1 was added gene: SUPT4H1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SUPT4H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUPT4H1 were set to 41842694 Phenotypes for gene: SUPT4H1 were set to Syndromic disease, MONDO:0002254, SUPT4H1-related Review for gene: SUPT4H1 was set to GREEN Added comment: SUPT4H1 encodes SPT4 which is a subunit of the DSIF complex that regulates RNA polymerase II transcription. PMID 41842694 reports six individuals from three unrelated families with biallelic loss‑of‑function SUPT4H1 variants. 2 families were consanguineous, the other was not noted to have been. Clinical presentations of affected individuals included moderate to severe intellectual disability, dystonia, speech impairment, dysmorphism, skeletal anomalies including vertebral fusion/bifid vertebrae and complete enamel hypoplasia in 6/6 individuals. Variable additional features included epilepsy, spasticity and congenital heart defects. Variants were homozygous with one extension and 2 missense variants. Loss of function presumed mechanism. Supportive functional studies included altered transcriptomics and proteomics of other genes/proteins across patient samples. C. elegans knockout and variant knock‑in models demonstrated altered movement and behaviour. Sources: Literature |
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