Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder
✍ Scribed by Senthil K. Sundaram; Ahm M. Huq; Zhen Sun; Wu Yu; Lindsey Bennett; Benjamin J. Wilson; Michael E. Behen; Harry T. Chugani
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 101 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0364-5134
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✦ Synopsis
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. Ann Neurol 2011;69:901–904