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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 copy number analysis of chromosome 8.(A) Ideogram of chromosome 8. (B) Results of SNP-array integrated with CNV probes. Blue spots, B allele freq; Red line, smoothed Log R; Genes were annotated: Red, deletion; Black, normal; Green, duplication. Regions of REPD and REPP were annotated in brown bar.
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pone-0072515-g002: The copy number analysis of chromosome 8.(A) Ideogram of chromosome 8. (B) Results of SNP-array integrated with CNV probes. Blue spots, B allele freq; Red line, smoothed Log R; Genes were annotated: Red, deletion; Black, normal; Green, duplication. Regions of REPD and REPP were annotated in brown bar.

Mentions: SNP-array showed us the child carried only one copy in each beta-defensin gene cluster (DEFB) at chr8∶7230125–7342754 and chr8∶7677945–7835713. Another deletion was found in the olfactory receptor (OR) gene cluster (chr8∶11971611–12054845 and chr8∶12273531–12392405), which is much smaller and has few genes (see Figure 2).


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 copy number analysis of chromosome 8.(A) Ideogram of chromosome 8. (B) Results of SNP-array integrated with CNV probes. Blue spots, B allele freq; Red line, smoothed Log R; Genes were annotated: Red, deletion; Black, normal; Green, duplication. Regions of REPD and REPP were annotated in brown bar.
© Copyright Policy
Related In: Results  -  Collection

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

pone-0072515-g002: The copy number analysis of chromosome 8.(A) Ideogram of chromosome 8. (B) Results of SNP-array integrated with CNV probes. Blue spots, B allele freq; Red line, smoothed Log R; Genes were annotated: Red, deletion; Black, normal; Green, duplication. Regions of REPD and REPP were annotated in brown bar.
Mentions: SNP-array showed us the child carried only one copy in each beta-defensin gene cluster (DEFB) at chr8∶7230125–7342754 and chr8∶7677945–7835713. Another deletion was found in the olfactory receptor (OR) gene cluster (chr8∶11971611–12054845 and chr8∶12273531–12392405), which is much smaller and has few genes (see Figure 2).

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