Biallelic mutations in NRROS cause an early onset lethal microgliopathy

Colin Smith, Barry W. McColl, Anirudh Patir, Jack Barrington, Jeremy Armishaw, Antonia Clarke, Jenny Eaton, Vivienne Hobbs, Sahar Mansour, Melinda Nolan, Gillian I. Rice, Mathieu P Rodero, Luis Seabra, Carolina Uggenti, John H Livingston, Leslie R Bridges, Iona J. M. Jeffrey, Yanick J Crow

Research output: Contribution to journalArticlepeer-review

Abstract

Microglia are tissue-resident macrophages playing essential roles in central nervous system (CNS) development and homeostasis [14, 17]. The importance of microglia for brain health in humans has been highlighted by the definition of Mendelian disorders associated with dysfunction of microglia-related proteins. These so-called microgliopathies [20] comprise a diverse set of neurological phenotypes including disease due to mutations in CSF1R [5, 8, 13], DAP12 and TYROBP/TREM2 [4, 7], USP18 [3, 11, 16, 18], and IRF8 [2, 6]. Here, we describe a novel early onset lethal encephalopathy due to mutations in the microglial-associated protein NRROS.
Original languageEnglish
Pages (from-to)947-951
Number of pages5
JournalActa Neuropathologica
Volume139
Issue number5
Early online date25 Feb 2020
DOIs
Publication statusPublished - 31 May 2020

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