{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T19:25:11Z","timestamp":1778095511333,"version":"3.51.4"},"reference-count":47,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T00:00:00Z","timestamp":1761782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018712","name":"University of Medicine and Pharmacy from Cluj-Napoca","doi-asserted-by":"publisher","award":["PCD 771\/48"],"award-info":[{"award-number":["PCD 771\/48"]}],"id":[{"id":"10.13039\/501100018712","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Noonan syndrome (NS) is a genetically heterogeneous condition within the RASopathies spectrum, with distinctive craniofacial features, congenital heart defects, short stature, and variably present developmental delay. Most cases result from variants in genes regulating the RAS\/MAPK pathway, with PTPN11 variants being the most frequent; the c.922A&gt;G substitution being among the most commonly reported. Methods: This pilot study analyzed clinical and partial genetic features of NS in a cohort from Transylvania, evaluated in the Children\u2019s Emergency Clinical Hospital in Cluj-Napoca. Thirty-one patients fulfilling the Van der Burgt diagnostic criteria (twenty-two males, nine females) were included. Clinical data were systematically reviewed, and targeted molecular testing for the PTPN11 c.922A&gt;G variant was performed. Results: Congenital heart defects were highly prevalent, with pulmonary stenosis representing the most frequent anomaly (54.8%). Craniofacial dysmorphism was observed in 76.7% of cases, cryptorchidism in 50% of the males, and short stature below the third percentile was described in 77.4% of patients. Genetic screening identified the PTPN11 c.922A&gt;G variant in two individuals (6.45%). Additional diagnoses included Williams\u2013Beuren syndrome and a 17q11.2 deletion consistent with Neurofibromatosis\u2013Noonan syndrome, underscoring the clinical and genetic heterogeneity of the cohort. Comparison with international reports highlighted variability in phenotype and variant frequency. Future research directions include Sanger sequencing of key PTPN11 exons and the application of next-generation sequencing targeting all RAS pathway genes. Conclusions: This is the first Romanian cohort study on patients with a clinical suspicion of NS, providing insight into their evaluation. The findings reinforce the need for comprehensive molecular approaches, facilitating diagnostic precision and counseling strategies.<\/jats:p>","DOI":"10.3390\/diagnostics15212753","type":"journal-article","created":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T02:48:28Z","timestamp":1761878908000},"page":"2753","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A&gt;G Variant and Phenotypic Spectrum"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8864-9191","authenticated-orcid":false,"given":"Florina Victoria","family":"Nazarie","sequence":"first","affiliation":[{"name":"Discipline of Medical Genetics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, Cluj-Napoca, 6, Pasteur St., 400349 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8777-0689","authenticated-orcid":false,"given":"Diana","family":"Miclea","sequence":"additional","affiliation":[{"name":"1st Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 68, Calea Mo\u021bilor St., 400370 Cluj-Napoca, Romania"},{"name":"Medical Genetics Compartment, Children\u2019s Emergency Clinical Hospital, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Crina","family":"\u0218ufan\u0103","sequence":"additional","affiliation":[{"name":"1st Pediatrics Clinic, Children\u2019s Emergency Clinical Hospital, 68, Calea Mo\u021bilor St., 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0326-5891","authenticated-orcid":false,"given":"Alina","family":"Botezatu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 34, Victor Babes St., 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1494-5369","authenticated-orcid":false,"given":"Radu Anghel","family":"Popp","sequence":"additional","affiliation":[{"name":"Discipline of Medical Genetics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, Cluj-Napoca, 6, Pasteur St., 400349 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0679-1379","authenticated-orcid":false,"given":"Ionela Maria","family":"Pascanu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, George Emil Palade University of Medicine, Pharmacy, Sciences and Technology of T\u00e2rgu Mure\u0219, 46, Gheorghe Marinescu St., 540136 T\u00e2rgu Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4364-7181","authenticated-orcid":false,"given":"Camelia","family":"Alkhzouz","sequence":"additional","affiliation":[{"name":"1st Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 68, Calea Mo\u021bilor St., 400370 Cluj-Napoca, Romania"},{"name":"Medical Genetics Compartment, Children\u2019s Emergency Clinical Hospital, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4557-0333","authenticated-orcid":false,"given":"Simona","family":"Bucerzan","sequence":"additional","affiliation":[{"name":"1st Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 68, Calea Mo\u021bilor St., 400370 Cluj-Napoca, Romania"},{"name":"Medical Genetics Compartment, Children\u2019s Emergency Clinical Hospital, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7750-431X","authenticated-orcid":false,"given":"C\u0103lin","family":"Laz\u0103r","sequence":"additional","affiliation":[{"name":"1st Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 68, Calea Mo\u021bilor St., 400370 Cluj-Napoca, Romania"},{"name":"1st Pediatrics Clinic, Children\u2019s Emergency Clinical Hospital, 68, Calea Mo\u021bilor St., 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7649-5308","authenticated-orcid":false,"given":"Cecilia","family":"Lazea","sequence":"additional","affiliation":[{"name":"1st Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 68, Calea Mo\u021bilor St., 400370 Cluj-Napoca, Romania"},{"name":"1st Pediatrics Clinic, Children\u2019s Emergency Clinical Hospital, 68, Calea Mo\u021bilor St., 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2476-9706","authenticated-orcid":false,"given":"Romana","family":"Vulturar","sequence":"additional","affiliation":[{"name":"Discipline of Cell and Molecular Biology, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, Cluj-Napoca, 6, Pasteur St., 400349 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.gde.2009.04.001","article-title":"The RASopathies: Developmental syndromes of 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