{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T08:43:23Z","timestamp":1777193003782,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,22]],"date-time":"2011-04-22T00:00:00Z","timestamp":1303430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ten members of a 3\u2010generation pedigree with 7 showing Tourette syndrome\/chronic tic phenotype (TS\u2010CTD) were evaluated with whole exome sequencing. We identified 3 novel, nonsynonymous single nucleotide variants in the <jats:italic>MRPL3, DNAJC13<\/jats:italic>, and <jats:italic>OFCC1<\/jats:italic> 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\u2032 untranslated region of the <jats:italic>OFCC1<\/jats:italic> gene was found in 2 TS\u2010CTD patients from a different pedigree. Further studies will clarify the importance of variants in <jats:italic>MRPL3, DNAJC13<\/jats:italic>, and <jats:italic>OFCC1<\/jats:italic> genes in TS. 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