Julie W Rutten, Minne N Cerfontaine, Kyra L Dijkstra, Aat A Mulder, Jeroen Vreijling, Mark Kruit, Roman I Koning, Susanne T de Bot, Koen M van Nieuwenhuizen, Hans J Baelde, Henk W Berendse, Leon H Mei, George J G Ruijter, Frank Baas, Carolina R Jost, Sjoerd G van Duinen, Esther A R Nibbeling, Gido Gravesteijn, Saskia A J Lesnik Oberstein
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 MRI, neuropathology, electron microscopy, Western Blotting and transcriptomic and metabolic analyses in seven NIT1-small vessel disease patients from five unrelated pedigrees. RESULTS: The first identified patients were three siblings, compound heterozygous for the NIT1 c...
February 27, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics