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Article

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.

American journal of medical genetics. Part A - 1 Jun 2024

Romano Ferruccio, Haanpää Maria K, Pomianowski Pawel, Peraino Amanda Rose, Pollard John R, Di Feo Maria Francesca, Traverso Monica, Severino Mariasavina, Derchi Maria, Henzen Edoardo, Zara Federico, Faravelli Francesca, Capra Valeria, Scala Marcello

Abstract excerpt

UPF3B encodes the Regulator of nonsense transcripts 3B protein, a core-member of the nonsense-mediated mRNA decay pathway, protecting the cells from the potentially deleterious actions of transcripts with premature termination codons. Hemizygous variants in the UPF3B gene cause a spectrum of neuropsychiatric issues including intellectual disability, autism spectrum disorder, attention deficit hyperactivity...

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PMID: 38318947
DOI: 10.1002/ajmg.a.63534

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