Article
A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.
Molecular genetics and metabolism - 1 Mar 2026
Ślusarczyk Klaudia, Kamińska Julia Zuzanna, Kuśmierska Katarzyna, Czyżyk Elżbieta, Łazicka Magdalena, Domżał Kacper, Rzońca-Niewczas Sylwia, Landowska Aleksandra, Szczałuba Krzysztof, Wertheim-Tysarowska Katarzyna, Sykut-Cegielska Jolanta, Szymańska Krystyna, Drożak Jakub, Rygiel Agnieszka Magdalena
Abstract excerpt
GTP cyclohydrolase I deficiency is a rare inherited disorder of biogenic amine metabolism due to pathogenic GCH1 variants, manifesting as DOPA-responsive dystonia or severe encephalopathy. Pathogenic variants in the NEXMIF gene cause X-linked intellectual disability and epilepsy. Here, using trio-WES approach, we identified a rare, previously uncharacterized GCH1 p.Arg170Gly variant and a novel NEXMIF...
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