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.
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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)
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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
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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)
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