Abstract | BACKGROUND: OBJECTIVE: METHODS: We analyzed clinical manifestations and performed exome sequencing in a cohort of 163 proline-rich transmembrane protein 2-negative probands, followed by filtering data with a paroxysmal movement disorders gene panel. Sanger sequencing, segregation analysis, and phenotypic reevaluation were used to substantiate the findings. RESULTS: The clinical characteristics of the enrolled 163 probands were summarized. A total of 39 heterozygous variants were identified, of which 33 were classified as benign, likely benign, and uncertain significance. The remaining 6 variants (3 novel, 3 documented) were pathogenic and likely pathogenic. Of these, 3 were de novo ( potassium calcium-activated channel subfamily M alpha 1, c.1534A>G; solute carrier family 2 member 1, c.418G>A; sodium voltage-gated channel alpha subunit 8, c.3640G>A) in 3 sporadic individuals, respectively. The other 3 (paroxysmal nonkinesiogenic dyskinesia protein, c.956dupA; potassium voltage-gated channel subfamily A member 1, c.765C>A; Dishevelled, Egl-10, and Pleckstrin domain containing 5, c.3311C>T) cosegregated in 3 families. All 6 cases presented with typical paroxysmal kinesigenic dyskinesia characteristics, except for the Dishevelled, Egl-10, and Pleckstrin domain containing 5 family, where the proband's mother had abnormal discharges in her temporal lobes in addition to paroxysmal kinesigenic dyskinesia episodes. CONCLUSIONS:
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Authors | Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang, Xiao-Meng Yin, Mei Zhang, Wei-Guo Tang, Xiao-Rong Liu, Bei-Sha Tang, Sheng-Di Chen, Li Cao |
Journal | Movement disorders : official journal of the Movement Disorder Society
(Mov Disord)
Vol. 33
Issue 3
Pg. 459-467
(03 2018)
ISSN: 1531-8257 [Electronic] United States |
PMID | 29356177
(Publication Type: Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)
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Copyright | © 2018 International Parkinson and Movement Disorder Society. |
Chemical References |
- DEPDC5 protein, human
- GTPase-Activating Proteins
- Glucose Transporter Type 1
- KCNMA1 protein, human
- Large-Conductance Calcium-Activated Potassium Channel alpha Subunits
- Muscle Proteins
- PNKD protein, human
- Repressor Proteins
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Topics |
- Adolescent
- Child
- Child, Preschool
- Cohort Studies
- Dystonia
(diagnosis, genetics)
- Family Health
- Female
- GTPase-Activating Proteins
- Genetic Predisposition to Disease
(genetics)
- Genetic Testing
- Glucose Transporter Type 1
(genetics)
- Humans
- Large-Conductance Calcium-Activated Potassium Channel alpha Subunits
(genetics)
- Male
- Muscle Proteins
(genetics)
- Mutation
(genetics)
- Repressor Proteins
(genetics)
- Young Adult
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