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Article

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2024

Valenzuela Irene, Codina-Solà Marta, Vazquez Elida, Cueto-González Anna, Leno-Colorado Jordi, Lasa-Aranzasti Amaia, Trujillano Laura, Masotto Bárbara, Masas Miriam, Escobar Mar, García-Arumí Elena, Tizzano Eduardo F

Abstract excerpt

PURPOSE: Despite ever-increasing knowledge of the genetic etiologies of neurodevelopmental disorders, approximately half remain undiagnosed after exome or genome sequencing. Here, we provide a deep clinical characterization of 11 previously unreported patients with a recently described neurodevelopmental disorder (NDD) due to pathogenic variants in RNU4-2. METHODS: The 11 patients were identified in a pool of 70...

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PMID: 39369315
DOI: 10.1016/j.gim.2024.101288

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