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UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

Clinical genetics - 1 May 2026

Chiriatti Luigi, Priolo Manuela, Leoni Chiara, Onesimo Roberta, Carvetta Mattia, Parrino Marta, Tamburrini Gianpiero, Contaldo Ilaria, Russo Rosellina, Friedman Jan, Rogan Sila, Ciolfi Andrea, Ferilli Marco, Cappelletti Camilla, Niceta Marcello, Radio Francesca Clementina, Mancini Cecilia, Tartaglia Marco, Zampino Giuseppe

Abstract excerpt

UBTF codes for a nucleolar transcription factor required for transcription of rDNA genes. UBTF gain-of-function (GoF) has been identified as the cause of CONDBA syndrome, with a recurrent missense change, p.Glu210Lys occurring in most affected individuals. More recently, eight subjects with truncating variants or microdeletions involving UBTF have been associated with a distinct neurodevelopmental disorder in...

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PMID: 41603098
DOI: 10.1111/cge.70126

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