Article
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
BMC medical genetics - 16 Jul 2020
Sun Dan, Liu Zhimei, Liu Yongchu, Wu Miaojuan, Fang Fang, Deng Xianbo, Liu Zhisheng, Song Liang, Murayama Kei, Zhang Chunhua, Zhu Yuanyuan
Abstract excerpt
BACKGROUND: Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different pathogenic mutations have been identified from over 40 patients to date. CASE PRESENTATION: Here, we report five Chinese patients with clinical syndromes typified as LS. Despite different initial...
Topics
- Asian People
- Base Sequence
- Brain
- Child
- Child, Preschool
- Enoyl-CoA Hydratase
- Family
- Female
- Humans
- Infant
- Infant, Newborn