{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T20:55:24Z","timestamp":1773867324233,"version":"3.50.1"},"reference-count":24,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,2,5]],"date-time":"2025-02-05T00:00:00Z","timestamp":1738713600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background and Objectives: Neurodevelopmental disorders (NDDs), including developmental delay (DD), autism spectrum disorder (ASD), intellectual disability (ID), attention-deficit\/hyperactivity disorder (ADHD), and specific learning disorders, affect 15% of children and adolescents worldwide. Advances in next-generation sequencing, particularly whole exome sequencing (WES), have improved the understanding of NDD genetics. Methodology: This study analyzed 3244 patients undergoing WES (single, duo, trio analyses), with 1028 meeting inclusion criteria (67% male; aged 0\u201350 years). Results: Pathogenic (P) or likely pathogenic (LP) variants were identified in 190 patients, achieving a diagnostic yield of 13.4% (singleton), 14% (duo), and 21.2% (trio). A total of 207 P\/LP variants were identified in NDD-associated genes: 38% were missense (48 de novo), 29% frameshift (26 de novo), 21% nonsense (14 de novo), 11% splicing site (14 de novo), and 1% inframe (1 de novo). De novo variants accounted for 49.8% of cases, with 86 novels de novo variants and 27 novel non de novo variants unreported in databases like ClinVar or scientific literature. Conclusions: This is the largest study on WES in Colombian children with NDDs and one of the largest in Latino populations. It highlights WES as a cost-effective first-tier diagnostic tool in low-income settings, reducing diagnostic timelines and improving clinical care. These findings underscore the feasibility of implementing WES in underserved populations and contribute significantly to understanding NDD genetics, identifying novel variants with potential for further research and clinical applications.<\/jats:p>","DOI":"10.3390\/diagnostics15030376","type":"journal-article","created":{"date-parts":[[2025,2,5]],"date-time":"2025-02-05T07:44:59Z","timestamp":1738741499000},"page":"376","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5395-6055","authenticated-orcid":false,"given":"Julian","family":"Lamilla","sequence":"first","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taryn A.","family":"Castro-Cuesta","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"},{"name":"Grupo de Gen\u00e9tica M\u00e9dica, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2209-9913","authenticated-orcid":false,"given":"Paula","family":"Rueda-Gait\u00e1n","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9901-4395","authenticated-orcid":false,"given":"Laura Camila","family":"Rios Pinto","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-1925-7929","authenticated-orcid":false,"given":"Diego Alejandro","family":"Rodr\u00edguez Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3807-6477","authenticated-orcid":false,"given":"Yuri Natalia","family":"Sanchez Rubio","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9071-6990","authenticated-orcid":false,"given":"Carlos","family":"Estrada-Serrato","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"},{"name":"Grupo de Gen\u00e9tica M\u00e9dica, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Londo\u00f1o","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"},{"name":"Grupo de Gen\u00e9tica M\u00e9dica, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Rucinski","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"},{"name":"Grupo de Gen\u00e9tica M\u00e9dica, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauricio","family":"Arcos-Burgos","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"},{"name":"Instituto de Investigaciones M\u00e9dicas, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn 050010, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Isaza-Ruget","sequence":"additional","affiliation":[{"name":"Grupo de Gen\u00e9tica M\u00e9dica, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"},{"name":"Instituto de Investigaciones M\u00e9dicas, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn 050010, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4989-4853","authenticated-orcid":false,"given":"Juan Javier","family":"L\u00f3pez Rivera","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico Especializado, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"},{"name":"Grupo de Gen\u00e9tica M\u00e9dica, Cl\u00ednica Universitaria Colombia, Cl\u00ednica Colsanitas, Bogot\u00e1 111321, Colombia"},{"name":"Keralty, Sanitas International Organization, Grupo de Investigaci\u00f3n INPAC, Fundaci\u00f3n Universitaria Sanitas, Bogot\u00e1 110131, 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