{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T21:18:49Z","timestamp":1792271929238,"version":"4.4.0"},"reference-count":26,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Single-gene mutations are important causes of congenital heart defects in children. Mutations in the NKX2-5 gene have been recently described in the literature as a cause of septal defects and cardiomyopathy. However, the spectrum of cardiac disease associated with NKX2-5 gene mutations is variable, ranging from asymptomatic septal defects to cardiomyopathy and sudden death. In this case report, we describe a case of 2-year-old child, along with two other family members, with a novel missense heterozygous (c.544G\u2009&gt;\u2009T p.[Val182Phe]) mutation in NKX2-5 gene consistent with the diagnosis of autosomal dominant atrial septal defects with cardiomyopathy. This report can contribute to the understanding of genotype\u2013phenotype correlations; it emphasizes the significant clinical relevance of NKX2-5 gene defects for congenital heart defects, sudden death, and cardiomyopathy, especially in multiple affected family members. It also suggests that individuals with NKX2-5 mutations are at risk of lethal arrhythmias and conduction disorders, that is why they should be evaluated routinely to assess the need for implantable cardioverter-defibrillator or pacemaker implantation.<\/jats:p>","DOI":"10.1055\/s-0044-1788252","type":"journal-article","created":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T19:00:25Z","timestamp":1720638025000},"page":"308-314","source":"Crossref","is-referenced-by-count":3,"title":["A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review"],"prefix":"10.53391","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3160-6868","authenticated-orcid":false,"given":"Abdulqader Al","family":"Zubaidi","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8757-7782","authenticated-orcid":false,"given":"Aisha","family":"Al-Shamsi","sequence":"additional","affiliation":[{"name":"Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2024,7,10]]},"reference":[{"issue":"09","key":"ref1","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1023\/A:1007601919164","article-title":"Risk factors for congenital heart diseases in Alexandria, Egypt","volume":"16","author":"A Bassili","year":"2000","journal-title":"Eur J Epidemiol"},{"issue":"21","key":"ref2","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.jacc.2011.08.025","article-title":"Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis","volume":"58","author":"D van der Linde","year":"2011","journal-title":"J Am Coll Cardiol"},{"issue":"03","key":"ref3","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1111\/chd.12317","article-title":"Familial atrial septal defect and sudden cardiac death: identification of a novel NKX2-5 mutation and a review of the literature","volume":"11","author":"S G Elles\u00f8e","year":"2016","journal-title":"Congenit Heart Dis"},{"issue":"21","key":"ref4","first-page":"003","article-title":"New genetic insights into congenital heart disease","volume":"S8","author":"S M Ware","year":"2012","journal-title":"J Clin Exp Cardiolog"},{"issue":"05","key":"ref5","doi-asserted-by":"crossref","first-page":"e612","DOI":"10.1002\/mgg3.612","article-title":"Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children","volume":"7","author":"E G Behiry","year":"2019","journal-title":"Mol Genet Genomic Med"},{"issue":"04","key":"ref6","first-page":"431","article-title":"Efficient 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