title: Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder.
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.
authors.affiliation: Department of Pediatrics, Wayne State University, USA.
authors.forename: Senthil K
authors.initials: SK
authors.lastname: Sundaram
authors.forename: Ahm M
authors.initials: AM
authors.lastname: Huq
authors.forename: Zhen
authors.initials: Z
authors.lastname: Sun
authors.forename: Wu
authors.initials: W
authors.lastname: Yu
authors.forename: Lindsey
authors.initials: L
authors.lastname: Bennett
authors.forename: Benjamin J
authors.initials: BJ
authors.lastname: Wilson
authors.forename: Michael E
authors.initials: ME
authors.lastname: Behen
authors.forename: Harry T
authors.initials: HT
authors.lastname: Chugani
mesh_terms: D002908:Chronic Disease; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D050956:HSP40 Heat-Shock Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011506:Proteins / Q000235:genetics; D016415:Sequence Alignment / Q000379:methods; D013981:Tic Disorders / Q000150:complications / Q000235:genetics*; D005879:Tourette Syndrome / Q000150:complications / Q000235:genetics*
chemical_list: C494651:DNAJC3 protein, human; D050956:HSP40 Heat-Shock Proteins; D024101:Mitochondrial Proteins; C491851:OFCC1 protein, human; D011506:Proteins