Article
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.
Neurogenetics - 1 Apr 2022
Macintosh Julia, Derksen Alexa, Poulin Chantal, Braverman Nancy, Vanderver Adeline, Thiffault Isabelle, Albrecht Steffen, Bernard Geneviève
Abstract excerpt
Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat protein expressed by microglia and perivascular macrophages. To date, 9 individuals have been reported with biallelic NRROS variants. Here, we report one individual with a severe neurodegenerative phenotype in which exome sequencing identified 2 novel variants in NRROS, a missense variant (c.185T>C, p.Leu62Pro) and a premature stop...
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