Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish
Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayse Gurel, Ricardo Moreno Traspas, Cheryl Q. E. Lee, Shan Zhang, Beril Talim, Abigail Loh, Crystal Y. Chia, Tze Shin Teoh, Danielle Sng, Jarred W. Rensvold, Şule Ünal, Evgenia Shishkova, , Bruno Reversade
The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.
The American Journal of Human Genetics · May 25, 2021Peer-reviewedGenetic & Genomic Medicine