Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement

• Main Authors: Ng, Adeline S. L., Tan, Yi Jayne, Yi, Zhao, Tandiono, Moses, Chew, Elaine, Dominguez, Jacqueline, Macas, Mabel, Ng, Ebonne, Hameed, Shahul, Ting, Simon, Tan, Eng King, Foo, Jia Nee, Kandiah, Nagaendran
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2019
• Subjects: Science::Medicine; TREM2; Frontotemporal Dementia
• Online Access: https://hdl.handle.net/10356/104418; http://hdl.handle.net/10220/50008
• Institution: Nanyang Technological University

To identify genes associated with frontotemporal dementia (FTD) in South-East Asia, targeted exome sequencing and C9orf72 genotyping was performed in 198 subjects (52 patients with FTD and 146 healthy controls) who were screened for mutations in 12 FTD-associated genes. We detected a homozygous TREM...