Back to Search
Start Over
R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease
- Source :
- Journal of Cardiovascular Medicine. 14:582-586
- Publication Year :
- 2013
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2013.
-
Abstract
- 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.
- Subjects :
- Adult
Heart Defects, Congenital
medicine.medical_specialty
Adolescent
Heart disease
DNA Mutational Analysis
Molecular Sequence Data
medicine.disease_cause
Denaturing high performance liquid chromatography
Mice
Dogs
Bicuspid aortic valve
Gene Frequency
Ductus arteriosus
Internal medicine
medicine
Animals
Humans
Genetic Predisposition to Disease
Amino Acid Sequence
cardiovascular diseases
Child
Vein
Gene
Aged
Homeodomain Proteins
Mutation
business.industry
Infant, Newborn
Infant
Syndrome
General Medicine
Middle Aged
medicine.disease
Phenotype
Pedigree
Rats
medicine.anatomical_structure
Case-Control Studies
Child, Preschool
Homeobox Protein Nkx-2.5
cardiovascular system
Cardiology
Cardiology and Cardiovascular Medicine
business
Sequence Alignment
Transcription Factors
Subjects
Details
- ISSN :
- 15582027
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- Journal of Cardiovascular Medicine
- Accession number :
- edsair.doi.dedup.....70983e8d35a25e8f02b980660a3f4568