Related Experiment Video
Updated: Jun 2, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder
Senthil K Sundaram1, Ahm M Huq, Zhen Sun
1Department of Pediatrics, Wayne State University, USA.
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.
Related Concept Videos
Pedigree Analysis
Pleiotropy
Incomplete Dominance
Sex-linked Disorders
Huntington Disease l: Introduction
Sex Linked Disorders

