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Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder
Author(s) -
Sundaram Senthil K.,
Huq Ahm M.,
Sun Zhen,
Yu Wu,
Bennett Lindsey,
Wilson Benjamin J.,
Behen Michael E.,
Chugani Harry T.
Publication year - 2011
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.22398
Subject(s) - exome sequencing , tourette syndrome , tics , medicine , exome , tic disorder , psychiatry , psychology , genetics , mutation , biology , gene
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