Article
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2024
Rutten Julie W, Cerfontaine Minne N, Dijkstra Kyra L, Mulder Aat A, Vreijling Jeroen, Kruit Mark, Koning Roman I, de Bot Susanne T, van Nieuwenhuizen Koen M, Baelde Hans J, Berendse Henk W, Mei Leon H, Ruijter George J G, Baas Frank, Jost Carolina R, van Duinen Sjoerd G, Nibbeling Esther A R, Gravesteijn Gido, Lesnik Oberstein Saskia A J
Abstract excerpt
PURPOSE: To describe a recessively inherited cerebral small vessel disease, caused by loss-of-function variants in Nitrilase1 (NIT1). METHODS: We performed exome sequencing, brain magnetic resonance imaging, neuropathology, electron microscopy, western blotting, and transcriptomic and metabolic analyses in 7 NIT1-small vessel disease patients from 5 unrelated pedigrees. RESULTS: The first identified patients were...
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