Article
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Nature genetics - 1 Apr 2026
Greene Daniel, Mendez Rodrigo, Lees Jon, Barbosa Mafalda, Bruselles Alessandro, Chiriatti Luigi, Ferraro Federico, Mancini Cecilia, Schot Rachel, Sleutels Frank, Bertini Enrico, Bonner Devon E, Bouman Arjan, Brooks Alice S, Cassini Thomas A, Ezell Kimberly M, Gomez-Ospina Natalia, Kleefstra Tjitske, O'Donoghue Michael, Rives Lynette, Shashi Vandana, Spillmann Rebecca C, Wafik Mohamed, Freson Kathleen, Barakat Tahsin Stefan, Tartaglia Marco, Bernstein Jonathan A, Mumford Andrew D, Wheeler Matthew T, Turro Ernest
Abstract excerpt
We recently showed that mutations in the snRNA genes RNU4-2 and RNU2-2 are prevalent causes of dominant neurodevelopmental disorders (NDDs). Here, by genetic association, we demonstrate the existence of a recessive form of RNU2-2 syndrome. We inferred a log Bayes factor for a recessive model of association of 18.2. Conditional on that model, 17 rare variants had a posterior probability of pathogenicity >0.8. This...
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