Article
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025
De Hayr Lachlan, Blok Laura E R, Dias Kerith-Rae, Long Jingyi, Begemann Anaïs, Moir Robyn D, Willis Ian M, Mocera Martina, Siegel Gabriele, Steindl Katharina, Evans Carey-Anne, Zhu Ying, Zhang Futao, Field Michael, Ma Alan, Adès Lesley, Josephi-Taylor Sarah, Pfundt Rolph, Zaki Maha S, Tomoum Hoda, Gregor Anne, Laube Julia, Reis André, Maddirevula Sateesh, Hashem Mais O, Zweier Markus, Alkuraya Fowzan S, Maroofian Reza, Buckley Michael F, Gleeson Joseph G, Zweier Christiane, Coll-Tané Mireia, Koolen David A, Rauch Anita, Roscioli Tony, Schenck Annette, Harvey Robert J
Abstract excerpt
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...
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