{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Husain RA"],"funding":["Deutsche Forschungsgemeinschaft","Michael J. Fox Foundation","Wellcome Centre for Mitochondrial Research","National Institutes of Health","Wellcome Trust","NIH HHS","NIGMS NIH HHS"],"pagination":["1197-1205"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10994549"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["147(4)"],"pubmed_abstract":["Dysfunctional RNA processing caused by genetic defects in RNA processing enzymes has a profound impact on the nervous system, resulting in neurodevelopmental conditions. We characterized a recessive neurological disorder in 18 children and young adults from 10 independent families typified by intellectual disability, motor developmental delay and gait disturbance. In some patients peripheral neuropathy, corpus callosum abnormalities and progressive basal ganglia deposits were present. The disorder is associated with rare variants in NUDT2, a mRNA decapping and Ap4A hydrolysing enzyme, including novel missense and in-frame deletion variants. We show that these NUDT2 variants lead to a marked loss of enzymatic activity, strongly implicating loss of NUDT2 function as the cause of the disorder"],"journal":["Brain : a journal of neurology"],"pubmed_title":["Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease."],"pmcid":["PMC10994549"],"funding_grant_id":["GM149262","HU 800/15-1","418081722","433158657","R35 GM149262","203105/Z/16/Z"],"pubmed_authors":["Mentzel HJ","Umair M","Haack TB","Beck-Wodl S","Lesca G","Reardon W","Palsule G","Altwaijri W","Maroofian R","Mekki M","Sanlaville D","Bauer P","Rubio I","Hennings JC","Dominik N","Alfadhel M","Bjorgo K","Hubner CA","Houlden H","Hart RP","Giesecke J","Abbasi SM","Pagnamenta AT","Efthymiou S","Beetz C","Khouj E","Alkuraya FS","Osmanovic D","El-Hattab AW","Taylor RW","Houge G","Putoux A","Mir A","Husain RA","Ilyas M","Rankin J","Kiledjian M","Jiao X","Nashabat M","Huppke P"],"additional_accession":[]},"is_claimable":false,"name":"Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.","description":"Dysfunctional RNA processing caused by genetic defects in RNA processing enzymes has a profound impact on the nervous system, resulting in neurodevelopmental conditions. We characterized a recessive neurological disorder in 18 children and young adults from 10 independent families typified by intellectual disability, motor developmental delay and gait disturbance. In some patients peripheral neuropathy, corpus callosum abnormalities and progressive basal ganglia deposits were present. The disorder is associated with rare variants in NUDT2, a mRNA decapping and Ap4A hydrolysing enzyme, including novel missense and in-frame deletion variants. We show that these NUDT2 variants lead to a marked loss of enzymatic activity, strongly implicating loss of NUDT2 function as the cause of the disorder","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2026-04-08T19:38:23.135Z","creation":"2025-04-04T20:28:01.586Z"},"accession":"S-EPMC10994549","cross_references":{"pubmed":["38141063"],"doi":["10.1093/brain/awad434"]}}