Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder
Authors:
- Ahm M. HuqAhm M. Huq
- Zhen SunZSZhen Sun
- Wu YuWYWu Yu
- Lindsey BennettLBLindsey Bennett
- Benjamin J. WilsonBWBenjamin J. Wilson
- Michael E. BehenMBMichael E. Behen
- Harry T. ChuganiHCHarry T. Chugani
- 23 February 2011
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 69 (5) , 901-904
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;69:901–904Keywords
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