title: A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Scientific Research Center, Xinhua Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, PR China.
authors.forename: Fei
authors.initials: F
authors.lastname: Long
authors.forename: Xike
authors.initials: X
authors.lastname: Wang
authors.forename: Shaohai
authors.initials: S
authors.lastname: Fang
authors.forename: Yuejuan
authors.initials: Y
authors.lastname: Xu
authors.forename: Kun
authors.initials: K
authors.lastname: Sun
authors.forename: Sun
authors.initials: S
authors.lastname: Chen
authors.forename: Rang
authors.initials: R
authors.lastname: Xu
mesh_terms: D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D055028:Comparative Genomic Hybridization; D004452:Echocardiography; D005260:Female; D020440:Gene Duplication; D056726:Genetic Association Studies; D006239:Haplotypes; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D055760:SOXF Transcription Factors / Q000235:genetics*; D023083:beta-Defensins / Q000235:genetics*
chemical_list: C484456:SOX7 protein, human; D055760:SOXF Transcription Factors; D023083:beta-Defensins