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:  MEDLINE    
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    
Journal Detail:
Title:  Journal of cardiovascular medicine (Hagerstown, Md.)     Volume:  14     ISSN:  1558-2035     ISO Abbreviation:  J Cardiovasc Med (Hagerstown)     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-06-28     Completed Date:  2014-02-12     Revised Date:  2014-06-10    
Medline Journal Info:
Nlm Unique ID:  101259752     Medline TA:  J Cardiovasc Med (Hagerstown)     Country:  United States    
Other Details:
Languages:  eng     Pagination:  582-6     Citation Subset:  IM    
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MeSH Terms
Amino Acid Sequence
Case-Control Studies
Child, Preschool
DNA Mutational Analysis / methods
Gene Frequency
Genetic Predisposition to Disease
Heart Defects, Congenital / genetics*
Homeodomain Proteins / genetics*
Infant, Newborn
Middle Aged
Molecular Sequence Data
Sequence Alignment
Transcription Factors / genetics*
Grant Support
090532//Wellcome Trust
Reg. No./Substance:
0/Homeodomain Proteins; 0/NKX2-5 protein, human; 0/Transcription Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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