A Colombian Boy with a Novel de novo PURA Variant: A Case Report.

Introduction: PURA syndrome is a neurodevelopmental disease caused by de novo pathogenic variants in PURA encoding the purine-binding element alpha protein. It is characterized by autosomal dominant inheritance and a heterogeneous phenotype.

Case presentation: We describe a 7-year-old patient with history of congenital pneumonia, accompanied by hypotonia, convulsive episodes, poor sucking ability, neurodevelopmental delay. Physical examination revealed some dysmorphic features. Molecular analysis identified a de novo, heterozygous variant in PURA (NM_005859.5): c.692T>C; p.Phe231Ser, which was classified as pathogenic.

Conclusion: In this report, we present a Colombian case of PURA syndrome. This case highlights the challenges associated with the early diagnosis of a newly described syndrome, in a limited-resources health system.