Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD.

Abstract

Tourette syndrome/chronic tic phenotype (TS-CTD) is a neurological disorder manifested particularly by motor and vocal tics and associated with a variety of behavioral abnormalities. Recently, the mitochondrial ribosomal protein L3 gene (MRPL3) S75N, the DnaJ (Hsp40) homolog subfamily C member 13 gene (DNAJC13) A2057S, the orofacial cleft 1 candidate 1 gene (OFCC1) R129G and c.-5A>G variants are reported to be associated with Tourette syndrome/chronic tic phenotype (TS-CTD) in patients of European ancestry. To evaluate whether these variants are associated with TS-CTD in Chinese Han patients, we screened 132 Chinese Han patients from Mainland China. None of the 132 samples from patients with TS-CTD showed the MRPL3 S75N, DNAJC13 A2057S, OFCC1 R129G and c.-5A>G variants, and these variants probably are a rare cause of TS-CTD in a Chinese Han ethnic group. Genetic heterogeneity of TS should be considered and tests designed to detect these variants in Chinese Han ethnic group probably will not have a diagnostic utility in clinical practice.

• Authors: Yi Guo, Xiong Deng, Jie Zhang, Linyan Su, Hongbo Xu, Ziqiang Luo, Hao Deng
• Journal: Neuroscience letters (Neurosci Lett) Vol. 517 Issue 1 Pg. 18-20 (May 23 2012) ISSN: 1872-7972 [Electronic] Ireland
• PMID: 22507240 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Chemical References

• DNAJC13 protein, human
• MRPL3 protein, human
• Mitochondrial Proteins
• Molecular Chaperones
• OFCC1 protein, human
• Proteins
• RPL3 protein, human
• Ribosomal Protein L3
• Ribosomal Proteins

Topics

• Adolescent
• Asian People (genetics)
• Child
• Child, Preschool
• China
• DNA Mutational Analysis
• Female
• Genes, Mitochondrial
• Genetic Heterogeneity
• Humans
• Male
• Mitochondrial Proteins (genetics)
• Molecular Chaperones (genetics)
• Phenotype
• Proteins (genetics)
• Ribosomal Protein L3
• Ribosomal Proteins (genetics)
• Tic Disorders (diagnosis, genetics)
• Tourette Syndrome (diagnosis, genetics)