A novel TSC2 mutation in a patient with tuberous sclerosis complex
- Minh Thu Tran Vu,
- Thuy Vy Nguyen,
- Bao Nam Tran Huynh,
- Lan Anh Le,
- Ngoc Thieu Pham Nguyen,
- Thi Dieu Ai Nguyen,
- Ngoc Hong Phuong Le,
- Vinh Pham Nguyen,
- Thuy Duong Ho Huynh
Thuy Vy Nguyen
Vietnam National University Ho Chi Minh City University of Science
Author ProfileNgoc Hong Phuong Le
Vietnam National University Ho Chi Minh City, School of Medicine
Author ProfileThuy Duong Ho Huynh
Vietnam National University Ho Chi Minh City University of Science
Author ProfileAbstract
We reported a patient presenting with tuberous sclerosis complex.
Next-generation sequencing showing a frameshift mutation in TSC2 gene
confirmed the clinical diagnosis. The study contributed to raise medical
awareness on tuberous sclerosis complex in Vietnam that could lead to
future approval of its diagnostics and treatment.