Article
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
American journal of human genetics - 5 Dec 2019
Wang Julia, Rousseau Justine, Kim Emily, Ehresmann Sophie, Cheng Yi-Ting, Duraine Lita, Zuo Zhongyuan, Park Ye-Jin, Li-Kroeger David, Bi Weimin, Wong Lee-Jun, Rosenfeld Jill, Gleeson Joseph, Faqeih Eissa, Alkuraya Fowzan S, Wierenga Klaas J, Chen Jiani, Afenjar Alexandra, Nava Caroline, Doummar Diane, Keren Boris, Juusola Jane, Grompe Markus, Bellen Hugo J, Campeau Philippe M
Abstract excerpt
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in Oxidative Resistance 1 (OXR1) in five individuals from three families; these individuals presented with a history of severe global developmental delay, current intellectual disability, language delay, cerebellar atrophy, and seizures....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.