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

2019; Wolters Kluwer; Volume: 5; Issue: 1 Linguagem: Inglês

10.1212/nxg.0000000000000306

2376-7839

Anderson Rodrigues Brandão de Paiva, David S. Lynch, Uirá Souto Melo, Leandro Tavares Lucato, Fernando Freua, Bruno Della Ripa de Assis, Isabella Peixoto de Barcelos, Clarice Listik, Diego de Castro dos Santos, Lúcia Inês Macedo‐Souza, Henry Houlden, Fernando Kok,

ATP Synthase and ATPases Research

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. The authors thank the patients and their family for participating in this study.