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.
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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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