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A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.

Long F, Wang X, Fang S, Xu Y, Sun K, Chen S, Xu R - PLoS ONE (2013)

Bottom Line: SNP-array was employed for fine mapping of the aberrant region and quantitative real-time PCR was used to confirm the results.Besides, the child carried a SOX7-gene duplication.While this duplication was not detected in his mother, it was found in two other patients with cardiac defects who also had the similar deletion in the beta-defensin repeats.

View Article: PubMed Central - PubMed

Affiliation: Scientific Research Center, Xinhua Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, PR China.

ABSTRACT

Objective: To determine the pathogenesis of a patient born with congenital heart defects, who had appeared normal in prenatal screening.

Methods: In routine prenatal screening, G-banding was performed to analyse the karyotypes of the family and fluorescence in situ hybridization was used to investigate the 22q11.2 deletion in the fetus. After birth, the child was found to be suffering from heart defects by transthoracic echocardiography. In the following study, sequencing was used to search for potential mutations in pivotal genes. SNP-array was employed for fine mapping of the aberrant region and quantitative real-time PCR was used to confirm the results. Furthermore, other patients with a similar phenotype were screened for the same genetic variations. To compare with a control, these variations were also assessed in the general population.

Results: The child and his mother each had a region that was deleted in the beta-defensin repeats, which are usually duplicated in the general population. Besides, the child carried a SOX7-gene duplication. While this duplication was not detected in his mother, it was found in two other patients with cardiac defects who also had the similar deletion in the beta-defensin repeats.

Conclusion: The congenital heart defects of the child were probably caused by a SOX7-gene duplication, which may be a consequence of the partial haplotype of beta-defensin regions at 8p23.1. To our knowledge, this is the first congenital heart defect case found to have the haplotype of beta-defensin and the duplication of SOX7.

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The echocardiography images of this case.MPA: main pulmonary artery, RV: right ventricular, VSD: ventricular septal defect, IVS: inter ventricular septum, LV: left ventricular, AO: aortic artery.
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pone-0072515-g001: The echocardiography images of this case.MPA: main pulmonary artery, RV: right ventricular, VSD: ventricular septal defect, IVS: inter ventricular septum, LV: left ventricular, AO: aortic artery.

Mentions: The child is currently a six-year-old male and was found to have a cardiac murmur during a health screening. He was diagnosed with complicated CHD when he was 4 months old. The symptoms included isolated dextrocardia, crisscross heart, double outlet of right ventricle (DORV), ventricular septal defect (VSD), atrial septal defect (ASD) and pulmonary hypertension (PH) (see Figure 1). Between the age of four months and six years old, he underwent Banding, Glenn and Fanton surgery and is under follow-up now. His mother had a cesarean section during labor due to the amniotic fluid II°contamination and the umbilical cord being wrapped around his neck. His Apar grade was 9/10 and weight was 3.6 kg. His parents were 29 when he was born; they are non-consanguineous and their karyotypes and cardiac morphology are normal. However, his sister (the proband) was diagnosed with tetralogy of Fallot (TOF) and died from anoxia when she was three years old. FISH results of the amniotic fluid were normal during his mother’s pregnancies, but she appeared to have the threat of miscarriages at early stages of these two pregnancies.


A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.

Long F, Wang X, Fang S, Xu Y, Sun K, Chen S, Xu R - PLoS ONE (2013)

The echocardiography images of this case.MPA: main pulmonary artery, RV: right ventricular, VSD: ventricular septal defect, IVS: inter ventricular septum, LV: left ventricular, AO: aortic artery.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3757027&req=5

pone-0072515-g001: The echocardiography images of this case.MPA: main pulmonary artery, RV: right ventricular, VSD: ventricular septal defect, IVS: inter ventricular septum, LV: left ventricular, AO: aortic artery.
Mentions: The child is currently a six-year-old male and was found to have a cardiac murmur during a health screening. He was diagnosed with complicated CHD when he was 4 months old. The symptoms included isolated dextrocardia, crisscross heart, double outlet of right ventricle (DORV), ventricular septal defect (VSD), atrial septal defect (ASD) and pulmonary hypertension (PH) (see Figure 1). Between the age of four months and six years old, he underwent Banding, Glenn and Fanton surgery and is under follow-up now. His mother had a cesarean section during labor due to the amniotic fluid II°contamination and the umbilical cord being wrapped around his neck. His Apar grade was 9/10 and weight was 3.6 kg. His parents were 29 when he was born; they are non-consanguineous and their karyotypes and cardiac morphology are normal. However, his sister (the proband) was diagnosed with tetralogy of Fallot (TOF) and died from anoxia when she was three years old. FISH results of the amniotic fluid were normal during his mother’s pregnancies, but she appeared to have the threat of miscarriages at early stages of these two pregnancies.

Bottom Line: SNP-array was employed for fine mapping of the aberrant region and quantitative real-time PCR was used to confirm the results.Besides, the child carried a SOX7-gene duplication.While this duplication was not detected in his mother, it was found in two other patients with cardiac defects who also had the similar deletion in the beta-defensin repeats.

View Article: PubMed Central - PubMed

Affiliation: Scientific Research Center, Xinhua Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, PR China.

ABSTRACT

Objective: To determine the pathogenesis of a patient born with congenital heart defects, who had appeared normal in prenatal screening.

Methods: In routine prenatal screening, G-banding was performed to analyse the karyotypes of the family and fluorescence in situ hybridization was used to investigate the 22q11.2 deletion in the fetus. After birth, the child was found to be suffering from heart defects by transthoracic echocardiography. In the following study, sequencing was used to search for potential mutations in pivotal genes. SNP-array was employed for fine mapping of the aberrant region and quantitative real-time PCR was used to confirm the results. Furthermore, other patients with a similar phenotype were screened for the same genetic variations. To compare with a control, these variations were also assessed in the general population.

Results: The child and his mother each had a region that was deleted in the beta-defensin repeats, which are usually duplicated in the general population. Besides, the child carried a SOX7-gene duplication. While this duplication was not detected in his mother, it was found in two other patients with cardiac defects who also had the similar deletion in the beta-defensin repeats.

Conclusion: The congenital heart defects of the child were probably caused by a SOX7-gene duplication, which may be a consequence of the partial haplotype of beta-defensin regions at 8p23.1. To our knowledge, this is the first congenital heart defect case found to have the haplotype of beta-defensin and the duplication of SOX7.

Show MeSH
Related in: MedlinePlus