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Article

Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.

Clinical genetics - 1 Nov 2021

Nøstvik Miriam, Kateta Sarah M, Schönewolf-Greulich Bitten, Afenjar Alexandra, Barth Magalie, Boschann Felix, Doummar Diane, Haack Tobias B, Keren Boris, Livshits Ludmila A, Mei Davide, Park Joohyun, Pisano Tiziana, Prouteau Clement, Umair Muhammad, Waqas Ahmed, Ziegler Alban, Guerrini Renzo, Møller Rikke S, Tümer Zeynep

Abstract excerpt

Biallelic variants in PUS3 have recently been recognized as a rare cause of neurodevelopmental disorders. Pseudouridine synthase-3 encoded by PUS3 is an enzyme important for modification of various RNAs, including transfer RNA (tRNA). Here we present the clinical and genetic features of 21 individuals with biallelic PUS3 variants: seven new and 14 previously reported individuals, where clinical features of two...

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PMID: 34415064
DOI: 10.1111/cge.14051

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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