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Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and
Julia Macintosh1,2, Alexa Derksen1,2, Chantal Poulin1,3,4
1Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
Abstract:
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 codon (c.310C>T, p.Gln104Ter). Pathological examination revealed both extensive grey and white matter involvement, dystrophic calcifications, and infiltration of foamy macrophages. This is the first reported case of NRROS variants with a mitochondrial ultrastructure abnormality noted on electron microscopy analysis of post-mortem tissue.
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