Ontology highlight
ABSTRACT:
SUBMITTER: Pant DC
PROVIDER: S-EPMC6391109 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Pant Devesh C DC Dorboz Imen I Schluter Agatha A Fourcade Stéphane S Launay Nathalie N Joya Javier J Aguilera-Albesa Sergio S Yoldi Maria Eugenia ME Casasnovas Carlos C Willis Mary J MJ Ruiz Montserrat M Ville Dorothée D Lesca Gaetan G Siquier-Pernet Karine K Desguerre Isabelle I Yan Huifang H Wang Jingmin J Burmeister Margit M Brady Lauren L Tarnopolsky Mark M Cornet Carles C Rubbini Davide D Terriente Javier J James Kiely N KN Musaev Damir D Zaki Maha S MS Patterson Marc C MC Lanpher Brendan C BC Klee Eric W EW Pinto E Vairo Filippo F Wohler Elizabeth E Sobreira Nara Lygia de M NLM Cohen Julie S JS Maroofian Reza R Galehdari Hamid H Mazaheri Neda N Shariati Gholamreza G Colleaux Laurence L Rodriguez Diana D Gleeson Joseph G JG Pujades Cristina C Fatemi Ali A Boespflug-Tanguy Odile O Pujol Aurora A
The Journal of clinical investigation 20190211 3
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients with undetermined leukoencephalopathies to uncover the endoplasmic reticulum lipid desaturase DEGS1 as the causative gene in 19 patients from 13 unrelated families. Shared features among the cases include severe motor arrest, early nystagmus, dystonia, spasticity, and profound failure to thrive. MRI showed hypomyelination, thinning of the ...[more]