Exome sequencing identifies UPF3B as the causative gene for a Chinese non‐syndrome mental retardation pedigree. (28th September 2012)

• Record Type: Journal Article
• Authors: Xu, X; Zhang, L; Tong, P; Xun, G; Su, W; Xiong, Z; Zhu, T; Zheng, Y; Luo, S; Pan, Y; Xia, K; Hu, Z
• Is Part Of: Clinical genetics. Volume 83:Number 6(2013:Jun.)
• Page Start: 560
• Page End: 564
• Publication Date: 2012-09-28
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12014
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Mental retardation (MR) is a group of common and complex disabilities affecting the central nervous system and appears before the period of brain developmental maturity. Recently, only 40% of genetic MR has been identified, however 60% remains unexplained. In this study, we applied exome sequencing to identify the mutation p.R430X in <italic>UPF3B</italic> gene in an MR pedigree, which was validated by Sanger sequencing and completely cosegregated within this family. <italic>UPF3B</italic> gene encodes a protein involved in nonsense‐mediated mRNA decay (NMD). By real‐time quantitative PCR, we detected the significant difference in the mRNA expression levels of the <italic>UPF3B</italic> and the classical NMD pathway target growth arrest and DNA‐damage‐inducible‐beta (<italic>GADD45B</italic>) between the patients and the controls. Our results directly implicated that the mutation p.R430X in <italic>UPF3B</italic> gene was the genetic etiology of the MR pedigree.</p> </abstract>