Article
A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation.
The Journal of biological chemistry - 1 Aug 2024
Fasken Milo B, Leung Sara W, Cureton Lauryn A, Al-Awadi Maha, Al-Kindy Adila, van Hoof Ambro, Khoshnevis Sohail, Ghalei Homa, Al-Maawali Almundher, Corbett Anita H
Abstract excerpt
The RNA exosome is an evolutionarily conserved complex required for both precise RNA processing and decay. Pathogenic variants in EXOSC genes, which encode structural subunits of this complex, are linked to several autosomal recessive disorders. Here, we describe a missense allele of the EXOSC4 gene that causes a collection of clinical features in two affected siblings. This missense variant (NM_019037.3:...
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