Exome sequencing in paediatric patients with movement disorders
Anna Ka-Yee Kwong1, Mandy Ho-Yin Tsang1, Jasmine Lee-Fong Fung1
1Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China.
Orphanet Journal of Rare Diseases
|January 15, 2021
Summary
Whole exome sequencing identified genetic causes in 32% of pediatric movement disorder patients. Genetic diagnoses enabled targeted treatments and improved clinical management, highlighting precision medicine
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Movement disorders encompass hyperkinetic and hypokinetic conditions.
- Paediatric-onset movement disorders often present with unclear etiologies.
Purpose of the Study:
- Investigate the genetic underpinnings of paediatric movement disorders.
- Explore treatment implications following genetic diagnosis.
Main Methods:
- Whole exome sequencing (WES) was performed on 31 patients.
- Rare variants were analyzed for pathogenicity.
Main Results:
- A 32% diagnostic yield (10/31 patients) was achieved.
- Disease-causing variants were identified in genes including CTNNB1, KMT2B, and ATP1A3.
- 80% of diagnosed patients received potential treatments, with one showing improvement after deep brain stimulation.
Conclusions:
- Genetic diagnosis aids prognosis prediction and clinical management.
- Precision medicine approaches show significant potential for paediatric movement disorders.
