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Article

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.

Genes - 30 Jun 2026

Madej-Pilarczyk Agnieszka, Gawlik Marzena, Chałupczyńska Beata, Błaszkiewicz Jagoda, Wicher Dorota, Cieślikowska Agata, Babameto-Laku Anila, Chrzanowska Krystyna, Ciara Elżbieta

Abstract excerpt

Background:PURA-related neurodevelopmental disorder (PURA-NDD; OMIM #616158) is a rare autosomal dominant condition caused by pathogenic variants in the PURA gene encoding Purα, a multifunctional protein involved in DNA replication, transcriptional regulation, and RNA transport. Since its initial description in 2014, PURA-NDD has been increasingly recognized as a distinct clinical entity with early onset and a...

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Identifiers

PMID: 42510805
DOI: 10.3390/genes17070765
PMCID: PMC13409535

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PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.PMID 42510805Read ↗

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Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.Semantic proximity Read ↗

A clinical analysis and diagnosis course of children with PURA-related neurodevelopmental disorders in Tianjin, ChinaSemantic proximity Read ↗

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.Semantic proximity Read ↗

A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.Semantic proximity Read ↗

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.Semantic proximity Read ↗

Clinical and Genetic Characterization of Two Colombian Patients with PURA-Related Neurodevelopmental Disorder: Expanding the Latin American Phenotypic SpectrumSemantic proximity Read ↗

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.Semantic proximity Read ↗

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.Semantic proximity Read ↗

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