Article
Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder.
Annals of neurology - 1 May 2011
Sundaram Senthil K, Huq Ahm M, Sun Zhen, Yu Wu, Bennett Lindsey, Wilson Benjamin J, Behen Michael E, Chugani Harry T
Abstract excerpt
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'...
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