title: 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.affiliation: Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Guo
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Linyan
authors.initials: L
authors.lastname: Su
authors.forename: Hongbo
authors.initials: H
authors.lastname: Xu
authors.forename: Ziqiang
authors.initials: Z
authors.lastname: Luo
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D050259:Genes, Mitochondrial; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D018832:Molecular Chaperones / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D000090822:Ribosomal Protein L3; D012269:Ribosomal Proteins / Q000235:genetics*; D013981:Tic Disorders / Q000175:diagnosis / Q000235:genetics*; D005879:Tourette Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: C507525:DNAJC13 protein, human; C572431:MRPL3 protein, human; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; C491851:OFCC1 protein, human; D011506:Proteins; C000716547:RPL3 protein, human; D000090822:Ribosomal Protein L3; D012269:Ribosomal Proteins