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PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

de Paiva, ARB; Lynch, DS; Melo, US; Lucato, LT; Freua, F; de Assis, BDR; Barcelos, I; ... Kok, F; + view all (2019) PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy. Neurology Genetics , 5 (1) , Article e306. 10.1212/NXG.0000000000000306. Green open access

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Abstract

Mutations in PUS3, which encodes a highly conserved enzyme responsible for posttranscriptional modification of tRNA, have been shown in a single family to be a cause of nonsyndromic intellectual disability (ID).1 In this study, we used whole-exome sequencing (WES) to identify biallelic mutations in PUS3 associated with syndromic ID with dysmorphic features, white matter disease (WMD), and renal abnormalities in a nonconsanguineous family from Brazil.

Type: Article
Title: PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1212/NXG.0000000000000306
Publisher version: https://doi.org/10.1212/NXG.0000000000000306
Language: English
Additional information: This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10076761
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