Key result
Biallelic variants in GTF3C3 cause an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, and central nervous system malformations.
Why the study?
Biallelic variants in GTF3C3 were recently linked to autosomal recessive syndromic intellectual disability, but only 16 patients had been reported.
Case Report (n=17)
This case report expands the genotypic and phenotypic spectrum of GTF3C3-related syndromic intellectual disability.
May warrant GTF3C3 testing in unexplained syndromic neurodevelopmental cases; leaves open validation in larger cohorts.
Biallelic variants in GTF3C3 have been recently associated with an autosomal recessive form of syndromic intellectual disability, with only 16 patients reported to date. Using whole exome sequencing, we identified previously unreported biallelic GTF3C3 variants in a new patient, who also represents the oldest reported individual so far. We detail the genotype and phenotype of this case and provide a comprehensive review of all published patients to better define the clinical features and their frequency. The most consistent manifestations across the cohort include global developmental delay, intellectual disability, epilepsy, central nervous system malformations, and additional neurological abnormalities. This case, together with the literature review, further delineates the phenotype associated with GTF3C3 .
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López-López et al. (2026) conducted a case report in GTF3C3-related syndromic intellectual disability (n=17). Biallelic variants in GTF3C3 was evaluated on Phenotypic characterization. Biallelic variants in GTF3C3 cause an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, and central nervous system malformations.
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