Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder

• Published in: Annals of neurology 2011-05, Vol.69 (5), p.901-904
• Main Authors: Sundaram, Senthil K., Huq, Ahm M., Sun, Zhen, Yu, Wu, Bennett, Lindsey, Wilson, Benjamin J., Behen, Michael E., Chugani, Harry T.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Chronic Disease; DNA Mutational Analysis; Family Health; Female; Genes; Genetic Linkage; HSP40 Heat-Shock Proteins - genetics; Humans; Male; Malformations of the nervous system; Medical sciences; Medical treatment; Mitochondrial Proteins - genetics; Neurology; Pedigree; Phenotype; Polymorphism, Single Nucleotide - genetics; Proteins - genetics; Sequence Alignment - methods; Tic Disorders - complications; Tic Disorders - genetics; Tourette syndrome; Tourette Syndrome - complications; Tourette Syndrome - genetics
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/ana.22398

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