Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 21520241.
- Also identified by DOI 10.1002/ana.22398.
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Abstract
Ten members of a 3-generation pedigree with 7 showing Tourette syndrome/chronic tic phenotype (TS-CTD) were evaluated with whole exome sequencing. We identified 3 novel, nonsynonymous single nucleotide variants in the MRPL3, DNAJC13, and OFCC1 genes that segregated with chronic tic phenotype. These variants were not present in 100 control subjects or in dbSNP/1000 Genomes databases. A novel variant in the 5' untranslated region of the OFCC1 gene was found in 2 TS-CTD patients from a different pedigree. Further studies will clarify the importance of variants in MRPL3, DNAJC13, and OFCC1 genes in TS.
Medical subject headings
- Pedigree
- Tic Disorders
- Tourette Syndrome