Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

doi:10.1038/s41431-025-01820-1

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Article

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

European journal of human genetics : EJHG - 1 Apr 2025

Bruselles Alessandro, Mancini Cecilia, Chiriatti Luigi, Carvetta Mattia, Baroni Maria Chiara, Cappelletti Camilla, Caraffi Stefano Giuseppe, Celario Massimiliano, Ciolfi Andrea, Cordeddu Viviana, De Falco Alessandro, Ferilli Marco, Garavelli Livia, Leoni Chiara, Meossi Camilla, Niceta Marcello, Onesimo Roberta, Peluso Francesca, Politano Davide, Priolo Manuela, Radio Francesca Clementina, Santorelli Filippo, Signorini Sabrina, Sirchia Fabio, Valente Enza Maria, Zampino Giuseppe, Tartaglia Marco

Abstract excerpt

A narrow spectrum of heterozygous variants in RNU4-2, encoding the small nuclear RNA (snRNA) U4, underlies ReNU syndrome, a neurodevelopmental disorder (NDD) characterized by moderate to severe developmental delay (DD), intellectual disability (ID), a distinctive facial gestalt, and multisystem involvement. Pathogenic variants have primarily been reported within an 18-nt critical region contributing to...

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PMID: 40011755
DOI: 10.1038/s41431-025-01820-1
PMCID: PMC11986017

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