Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder.
paper
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- Authors
- Sundaram, Senthil K; Huq, Ahm M; Sun, Zhen; Yu, Wu; Bennett, Lindsey; Wilson, Benjamin J; Behen, Michael E; Chugani, Harry T
- Year
- 2011
- Journal
- Annals of neurology
- PMID
- 21520241
- DOI
- 10.1002/ana.22398
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.
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In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. | 2015 | 24821223 |
| Genome-wide association study of Tourette's syndrome. | 2013 | 22889924 |
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