Our aim was to characterize the phenotype and genotype of individuals with Noonan syndrome in Colombia. There are published cohorts of Noonan individuals from several countries in Latin America including Brazil, Chile, and Argentina, but none from Colombia. We described 26 individuals with NS from a single large referral center in the South West of Colombia using an established database in the genetics department and hospital records search using ICD‐10 codes. All patients included in this study were evaluated by a medical geneticist and have molecular confirmation of NS diagnosis. The median age at referral was 3.5 years (range, 0–39), and at molecular diagnosis was 5 years (range, 0–40). Patients mostly originated from the southwest region of Colombia (19/26, 73%). Pathogenic variants in PTPN11 are the most common cause of NS in Colombian individuals followed by SHOC2 and SOS1 variants. The prevalence of cardiomyopathy was low in this population compared to other populations. Further research is needed with a larger sample size and including different regions of Colombia to correlate our findings. This study provides new information about time to diagnosis of NS in Colombia, genotypes, and provides important information to help develop guidelines for diagnosis and management of this disease in the region.

中文翻译：

---

哥伦比亚参考机构 26 例 Noonan 综合征患者的临床和分子分析

我们的目的是描述哥伦比亚 Noonan 综合征患者的表型和基因型。有来自拉丁美洲几个国家（包括巴西、智利和阿根廷）的 Noonan 个人群组已发表，但没有来自哥伦比亚。我们使用遗传学部门建立的数据库和使用 ICD-10 代码的医院记录搜索描述了来自哥伦比亚西南部一个大型转诊中心的 26 名 NS 个体。本研究中包括的所有患者均由医学遗传学家评估，并具有 NS 诊断的分子确认。转诊时的中位年龄为 3.5 岁（范围，0-39），分子诊断时的中位年龄为 5 岁（范围，0-40）。患者多来自哥伦比亚西南地区（19/26, 73%）。PTPN11中的致病变异是哥伦比亚个体 NS 的最常见原因，其次是SHOC2和SOS1变体。与其他人群相比，该人群的心肌病患病率较低。需要更大的样本量并包括哥伦比亚不同地区的进一步研究来关联我们的研究结果。这项研究提供了有关哥伦比亚 NS 诊断时间、基因型的新信息，并提供了重要信息，以帮助制定该地区该疾病的诊断和管理指南。