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

Senthil K. Sundaram; Ahm M. Huq; Zhen Sun; Wu Yu; Lindsey Bennett; Benjamin J. Wilson; Michael E. Behen; Harry T. Chugani

doi:10.1002/ana.22398

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

Senthil K. Sundaram, Ahm M. Huq, Zhen Sun, Wu Yu, Lindsey Bennett, Benjamin J. Wilson, Michael E. Behen, Harry T. Chugani

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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;69:901-904

Original language	English
Pages (from-to)	901-904
Number of pages	4
Journal	Annals of Neurology
Volume	69
Issue number	5
DOIs	https://doi.org/10.1002/ana.22398
State	Published - May 2011

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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;69:901-904",

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AU - Sundaram, Senthil K.

AU - Huq, Ahm M.

AU - Sun, Zhen

AU - Yu, Wu

AU - Bennett, Lindsey

AU - Wilson, Benjamin J.

AU - Behen, Michael E.

AU - Chugani, Harry T.

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AB - 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

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

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