Publication: Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
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De Hayr, L., Blok, L. E. R., Dias, K.-R. M., Long, J., Begemann, A., Moir, R. D., Willis, I. M., Mocera, M., Siegel, G., Steindl, K., Evans, C.-A., Zhu, Y., Zhang, F., Field, M., Ma, A., Adès, L. C., Josephi-Taylor, S., Pfundt, R., Zaki, M. S., … et al. (2025). Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. Genetics in Medicine, 27(1), 101253. https://doi.org/10.1016/j.gim.2024.101253
Abstract
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Purpose This study details a novel syndromic form of autosomal recessive intellectual disability resulting from recessive variants in GTF3C3, encoding a key component of the DNA-binding transcription factor IIIC, which has a conserved role in RNA polymerase III-mediated transcription.
Methods Exome sequencing, minigene analysis, molecular modeling, RNA polymerase III reporter gene assays, and Drosophila knockdown models were utilized to characterize GTF3C3 variants.
Results Twelve affected individuals from 7 unrelated families were
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De Hayr, L., Blok, L. E. R., Dias, K.-R. M., Long, J., Begemann, A., Moir, R. D., Willis, I. M., Mocera, M., Siegel, G., Steindl, K., Evans, C.-A., Zhu, Y., Zhang, F., Field, M., Ma, A., Adès, L. C., Josephi-Taylor, S., Pfundt, R., Zaki, M. S., … et al. (2025). Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. Genetics in Medicine, 27(1), 101253. https://doi.org/10.1016/j.gim.2024.101253
