Document Detail

R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.
MedLine Citation:
PMID:  22964646     Owner:  NLM     Status:  Publisher    
AIMS: Heterozygous mutations in the transcription factor Nkx2.5 indicate a genetic cause for congenital heart diseases (CHDs) in human beings. The present study aimed to assess the prevalence of NKX2.5 mutations in Italian patients with sporadic non-syndromic and syndromic CHD, as well as to appraise any genotype-phenotype correlations. METHODS: One hundred Italian patients affected with CHD (90 had sporadic non-syndromic CHD and 10 had syndromic CHD) were screened for NKX2.5 mutations. The coding region and flanking regions involved in gene splicing of the CSX/NKX2.5 gene were amplified from genomic DNA by PCR, and mutational analysis was performed using denaturing high performance liquid chromatography and DNA sequencing. RESULTS: One previously reported NKX2.5 mutation (c.73C>T, p.R25C) was identified in two of the 100 CHD patients (2%). We have detected the p.R25C alteration in a woman showing aneurysm of the membranous septum, aortic coarctation and bicuspid aortic valve, that was a different phenotype from those previously reported, and for the first time in a patient with syndromic CHD with Down's syndrome (posterior ventricular septal defect, atrial septal defect, left superior cava vein ' sinus, and patent ductus arteriosus). CONCLUSION: Our results confirm that NKX2.5 mutations are not a common cause of CHD; furthermore, the p.R25C variation may increase susceptibility to development of CHD in patients with and without chromosomal abnormalities.
Giorgia Beffagna; Antonella Cecchetto; Lucia Dal Bianco; Alessandra Lorenzon; Annalisa Angelini; Massimo Padalino; Vladimiro Vida; Shoumo Bhattacharya; Giovanni Stellin; Alessandra Rampazzo; Luciano Daliento
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-9-7
Journal Detail:
Title:  Journal of cardiovascular medicine (Hagerstown, Md.)     Volume:  -     ISSN:  1558-2035     ISO Abbreviation:  J Cardiovasc Med (Hagerstown)     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-9-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101259752     Medline TA:  J Cardiovasc Med (Hagerstown)     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
aDepartment of Biology, University of Padua bDepartment of Cardiac-Thoracic and Vascular Sciences, University of Padua Medical School cCardiovascular Pathology, Department of Medical Diagnostic Sciences and Special Therapies, University of Padua, Padua, Italy dDepartment of Cardiovascular Medicine, The Wellcome Trust Centre for Human Genetics, Oxford, UK.
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