Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia
Paroxysmal kinesigenic dyskinesia (PKD) represents the most prevalent form of paroxysmal dyskinesia, characterized by recurrent and transient attacks of involuntary movements triggered by a sudden voluntary action. In this study, whole-exome sequencing was conducted on a cohort of Chinese patients t...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-04-01
|
| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024047054 |
| _version_ | 1797242976509886464 |
|---|---|
| author | Zhuangzhuang Yuan Qian Wang Chenyu Wang Yuxing Liu Liangliang Fan Yihui Liu Hao Huang |
| author_facet | Zhuangzhuang Yuan Qian Wang Chenyu Wang Yuxing Liu Liangliang Fan Yihui Liu Hao Huang |
| author_sort | Zhuangzhuang Yuan |
| collection | DOAJ |
| description | Paroxysmal kinesigenic dyskinesia (PKD) represents the most prevalent form of paroxysmal dyskinesia, characterized by recurrent and transient attacks of involuntary movements triggered by a sudden voluntary action. In this study, whole-exome sequencing was conducted on a cohort of Chinese patients to identify causal mutations. In one young female case, a de novo CACNA1B variant (NM_000718.3:exon3:c.479C > T:p.S160F) was identified as the causative lesion. This finding may broaden the phenotypic spectrum of CACNA1B mutations and provide a prospective cause of primary PKD. Additionally, a novel start-loss variant (NM_000682.7:c.3G > A) within ADRA2B further denied its association with benign adult familial myoclonic epilepsy, and a KCNQ2 E515D variant that was reported as a genetic susceptibility factor for seizures had no damaging effect in this family. In sum, this study established a correlation between CACNA1B and primary PKD, and found valid evidence that further negates the pathogenic role of ADRA2B in benign adult familial myoclonic epilepsy. |
| first_indexed | 2024-04-24T18:47:47Z |
| format | Article |
| id | doaj.art-be5a4e563feb4238a07d320d2d063574 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-24T18:47:47Z |
| publishDate | 2024-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-be5a4e563feb4238a07d320d2d0635742024-03-27T04:52:41ZengElsevierHeliyon2405-84402024-04-01107e28674Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesiaZhuangzhuang Yuan0Qian Wang1Chenyu Wang2Yuxing Liu3Liangliang Fan4Yihui Liu5Hao Huang6Department of Cell Biology, School of Life Science, Central South University, Changsha, ChinaDepartment of Cell Biology, School of Life Science, Central South University, Changsha, ChinaDepartment of Cell Biology, School of Life Science, Central South University, Changsha, ChinaDepartment of Cell Biology, School of Life Science, Central South University, Changsha, ChinaDepartment of Cell Biology, School of Life Science, Central South University, Changsha, ChinaDepartment of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou, China; Corresponding author.Department of Cell Biology, School of Life Science, Central South University, Changsha, China; Corresponding author.Paroxysmal kinesigenic dyskinesia (PKD) represents the most prevalent form of paroxysmal dyskinesia, characterized by recurrent and transient attacks of involuntary movements triggered by a sudden voluntary action. In this study, whole-exome sequencing was conducted on a cohort of Chinese patients to identify causal mutations. In one young female case, a de novo CACNA1B variant (NM_000718.3:exon3:c.479C > T:p.S160F) was identified as the causative lesion. This finding may broaden the phenotypic spectrum of CACNA1B mutations and provide a prospective cause of primary PKD. Additionally, a novel start-loss variant (NM_000682.7:c.3G > A) within ADRA2B further denied its association with benign adult familial myoclonic epilepsy, and a KCNQ2 E515D variant that was reported as a genetic susceptibility factor for seizures had no damaging effect in this family. In sum, this study established a correlation between CACNA1B and primary PKD, and found valid evidence that further negates the pathogenic role of ADRA2B in benign adult familial myoclonic epilepsy.http://www.sciencedirect.com/science/article/pii/S2405844024047054Paroxysmal kinesigenic dyskinesiaCACNA1BBenign adult familial myoclonic epilepsyStart-loss mutationADRA2B |
| spellingShingle | Zhuangzhuang Yuan Qian Wang Chenyu Wang Yuxing Liu Liangliang Fan Yihui Liu Hao Huang Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia Heliyon Paroxysmal kinesigenic dyskinesia CACNA1B Benign adult familial myoclonic epilepsy Start-loss mutation ADRA2B |
| title | Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia |
| title_full | Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia |
| title_fullStr | Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia |
| title_full_unstemmed | Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia |
| title_short | Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia |
| title_sort | identification of a de novo cacna1b variant and a start loss adra2b variant in paroxysmal kinesigenic dyskinesia |
| topic | Paroxysmal kinesigenic dyskinesia CACNA1B Benign adult familial myoclonic epilepsy Start-loss mutation ADRA2B |
| url | http://www.sciencedirect.com/science/article/pii/S2405844024047054 |
| work_keys_str_mv | AT zhuangzhuangyuan identificationofadenovocacna1bvariantandastartlossadra2bvariantinparoxysmalkinesigenicdyskinesia AT qianwang identificationofadenovocacna1bvariantandastartlossadra2bvariantinparoxysmalkinesigenicdyskinesia AT chenyuwang identificationofadenovocacna1bvariantandastartlossadra2bvariantinparoxysmalkinesigenicdyskinesia AT yuxingliu identificationofadenovocacna1bvariantandastartlossadra2bvariantinparoxysmalkinesigenicdyskinesia AT liangliangfan identificationofadenovocacna1bvariantandastartlossadra2bvariantinparoxysmalkinesigenicdyskinesia AT yihuiliu identificationofadenovocacna1bvariantandastartlossadra2bvariantinparoxysmalkinesigenicdyskinesia AT haohuang identificationofadenovocacna1bvariantandastartlossadra2bvariantinparoxysmalkinesigenicdyskinesia |