title: Homeobox C9 is not potentially related to congenital heart disease in Chinese patients.
abstract: BACKGROUND
  Congenital heart disease (CHD) is one of the most common human birth defects. The etiology and pathogenesis of CHD are complex and involve several genes as well as multiple changes in signaling pathways. The aim of this study was to identify potential pathological mutations in the Homeobox C9 (Hoxc9) gene in 350 Chinese children with CHD to further understand the etiology of CHD.
  
  
  METHODS
  Sequence analysis of the Hoxc9 gene in 350 nonsyndromic patients with CHD Result: We did not identify any nonsynonymous variants in the coding regions of Hoxc9 in the patients with CHD. We found one synonymous variant c.C564T (p. his188his) in one ventricular septal defect patient. We also identified four previously reported polymorphisms (rs56368105, rs12817092, rs34079606, and rs2241820) in CHD.
  
  
  CONCLUSIONS
  We did not find any diagnostic alterations in the coding regions of Hoxc9 among the patients with CHD. Nevertheless, to our knowledge, this is the first study of Hoxc9 in nonsyndromic CHD and has expanded our overall knowledge of the etiology of this disease.
authors: Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
authors: Lei
authors: L
authors: Sun
authors: Longfei
authors: L
authors: Cheng
authors: Congmin
authors: C
authors: Li
authors: Bingren
authors: B
authors: Gao
authors: Binbin
authors: B
authors: Wang
authors: Jing
authors: J
authors: Wang
authors: Xiaochen
authors: X
authors: Wang
authors: Tianchu
authors: T
authors: Huang
authors: Hui
authors: H
authors: Li
authors: Xu
authors: X
authors: Ma
mesh_terms: D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D006330:Heart Defects, Congenital / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D018398:Homeodomain Proteins; C522807:Hoxc9 protein, human