title: Application of next generation sequencing technology in Mendelian movement disorders.
abstract: Next generation sequencing (NGS) has developed very rapidly in the last decade. Compared with Sanger sequencing, NGS has the advantages of high sensitivity and high throughput. Movement disorders are a common type of neurological disease. Although traditional linkage analysis has become a standard method to identify the pathogenic genes in diseases, it is getting difficult to find new pathogenic genes in rare Mendelian disorders, such as movement disorders, due to a lack of appropriate families with high penetrance or enough affected individuals. Thus, NGS is an ideal approach to identify the causal alleles for inherited disorders. NGS is used to identify genes in several diseases and new mutant sites in Mendelian movement disorders. This article reviewed the recent progress in NGS and the use of NGS in Mendelian movement disorders from genome sequencing and transcriptome sequencing. A perspective on how NGS could be employed in rare Mendelian disorders is also provided.
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078, China.
authors.forename: Yumin
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078, China.
authors.forename: Xuya
authors.initials: X
authors.lastname: Pan
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078, China.
authors.forename: Dan
authors.initials: D
authors.lastname: Xue
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078, China.
authors.forename: Yuwei
authors.initials: Y
authors.lastname: Li
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078, China.
authors.forename: Xueying
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078, China.
authors.forename: Biao
authors.initials: B
authors.lastname: Kuang
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078, China.
authors.forename: Jiabo
authors.initials: J
authors.lastname: Zheng
authors.affiliation: Hunan Key Laboratory of Nonresolving Infl ammation and Cancer, Disease Genome Research Center, Third Xiangya Hospital, Central South University, Changsha 410013, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078; Hunan Key Laboratory of Nonresolving Infl ammation and Cancer, Disease Genome Research Center, Third Xiangya Hospital, Central South University, Changsha 410013, China.
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Li
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078; Hunan Key Laboratory of Nonresolving Infl ammation and Cancer, Disease Genome Research Center, Third Xiangya Hospital, Central South University, Changsha 410013, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Xiong
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078; Hunan Key Laboratory of Nonresolving Infl ammation and Cancer, Disease Genome Research Center, Third Xiangya Hospital, Central South University, Changsha 410013, China.
authors.forename: Zhaoyang
authors.initials: Z
authors.lastname: Zeng
authors.affiliation: Hunan Key Laboratory of Translational Radiation Oncology, Hunan Caner Hospital and the Affi liated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410013; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Central South University, Changsha 410078; Hunan Key Laboratory of Nonresolving Infl ammation and Cancer, Disease Genome Research Center, Third Xiangya Hospital, Central South University, Changsha 410013, China.
authors.forename: Guiyuan
authors.initials: G
authors.lastname: Li
mesh_terms: D000483:Alleles; D008040:Genetic Linkage; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009069:Movement Disorders / Q000175:diagnosis* / Q000235:genetics; D017422:Sequence Analysis, DNA; D059467:Transcriptome