Fulya Taylan

Abstract Neurodevelopmental disorders (NDDs) affect 2–4% of the population, are predominantly genetic and remain unsolved in ~50% of individuals. We show that rare biallelic variants in RNU2-2 are enriched and over-transmitted in individuals with unresolved NDDs. We define a recessive RNU2-2 syndrome, delineate its unique genetic architecture and show that it manifests clinically as a severe developmental and epileptic encephalopathy.

Conflicts of Interest The authors declare no conflicts of interest. Supporting Information Filename Description ajmga64179-sup-0001-FigureS1.pptxPowerPoint 2007 presentation , 267.7 KB Figure S1. (A) Cranial MRI showing pituitary hypoplasia (3 years, 9 months). Hand X-rays taken at age 7 years, 4 months (B) and 9 years, 5 months (C), demonstrating irregular and flared metaphyses, as well as shortened phalanges and metacarpals. ajmga64179-sup-0002-supinfo.xlsxExcel 2007 spreadsheet , 32.2 KB Data S1.

Conflicts of Interest The authors declare no conflicts of interest. Supporting Information Filename Description ajmga64179-sup-0001-FigureS1.pptxPowerPoint 2007 presentation , 267.7 KB Figure S1. (A) Cranial MRI showing pituitary hypoplasia (3 years, 9 months). Hand X-rays taken at age 7 years, 4 months (B) and 9 years, 5 months (C), demonstrating irregular and flared metaphyses, as well as shortened phalanges and metacarpals. ajmga64179-sup-0002-supinfo.xlsxExcel 2007 spreadsheet , 32.2 KB Data S1.