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

Neurosci Lett. 2012 May 23;517(1):18-20. doi: 10.1016/j.neulet.2012.03.097. Epub 2012 Apr 9.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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
  • Tic Disorders / genetics*
  • Tourette Syndrome / diagnosis
  • Tourette Syndrome / genetics*

Substances

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