Details

Autor(en) / Beteiligte

• Sun, Dan
• Liu, Zhimei
• Liu, Yongchu
• Wu, Miaojuan
• Fang, Fang
• Deng, Xianbo
• Liu, Zhisheng
• Song, Liang
• Murayama, Kei
• Zhang, Chunhua
• Zhu, Yuanyuan

Titel

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report

Ist Teil von

• BMC medical genetics, 2020-07, Vol.21 (1), p.1-12, Article 149

Ort / Verlag

London: BioMed Central Ltd

Erscheinungsjahr

2020

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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. The severity of ECHS1 deficiency seems to vary. It was affected by both genetics and external environmental factors that lead to increased metabolism. Our study enriched the mutation spectrum of the ECHS1 gene, confirmed the phenotypic presentations, and highlighted the importance of the valine catabolic pathway in Leigh syndrome. Further studies are required to examine the potential founder mutation c.463G > A (p.Gly155Ser) and the role of ECHS1 in relevant pathways.