What question did this study set out to answer?

This research aims to characterize the genetic profile of Noonan syndrome in a Colombian pediatric cohort.

April 18, 2026Open Access

Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort

Key Points

This research aims to characterize the genetic profile of Noonan syndrome in a Colombian pediatric cohort.
Genetic analysis of a cohort of Colombian children diagnosed with Noonan syndrome.
Identification of predominant genes, specifically focusing on PTPN11 variants.
Assessment of clinical features and potential health risks.
PTPN11 was identified as the most common gene associated with Noonan syndrome in this cohort.
The p.(Asn308Asp) variant was specifically prevalent.
Findings highlight the genetic diversity of Noonan syndrome and the necessity of early diagnosis.

Abstract

This study represents the first genetically characterized Colombian cohort for NS. PTPN11 was the predominant gene identified, particularly the p.(Asn308Asp) variant. These findings underscore the genetic heterogeneity of NS and emphasize the importance of early molecular diagnosis to guide clinical management. Multidisciplinary follow-up is essential due to the risks of growth failure, cardiac anomalies, and malignancies.

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Cite This Study

Rueda et al. (Thu,) studied this question.

synapsesocial.com/papers/69e3215140886becb6540845 https://doi.org/https://doi.org/10.4274/jcrpe.galenos.2026.2025-10-7

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