Journal
NEUROGENETICS
Volume 23, Issue 2, Pages 151-156Publisher
SPRINGER
DOI: 10.1007/s10048-022-00683-8
Keywords
NRROS; Pediatric neurodegeneration; Intracranial calcifications; Exome sequencing
Categories
Funding
- Canadian Institutes for Health Research [426534, 201610PJT- 377869]
- Healthy Brains, Healthy Lives - CIHR
- Fondation du Grand Defi Pierre Lavoie - Kamens Chair in Translational Neurotherapeutics
- Fonds de Recherche du Quebec - Sante (FRQS)
- Canadian Institutes of Health Research
- FRQS
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This study reports an individual with NRROS variants presenting with a severe neurodegenerative phenotype, with pathological examination revealing extensive grey and white matter involvement, as well as abnormal mitochondrial ultrastructure.
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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