title: A novel mutation of HOXA10 in a Chinese woman with a Mullerian duct anomaly.
abstract: BACKGROUND
  Müllerian duct anomalies consist of a set of congenital structural malformations that occur when the Müllerian ducts do not develop properly during embryonic life. Their molecular genetic basis is poorly understood.
  
  
  METHODS
  In this study, we conducted mutation analysis of the HOXA10 gene in a cohort of 109 Chinese women with Müllerian duct anomalies.
  
  
  RESULTS
  We identified a novel mutation (Y57C) in one patient with a didelphic uterus. The mutation affected the transcriptional regulation capacity of HOXA10.
  
  
  CONCLUSIONS
  Our study showed that mutation of HOXA10 gene may contribute to the development of Müllerian duct anomalies and confirmed that HOXA10 is an important transcription factor in reproductive tract development.
authors: Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei 230022, China.
authors: Zhi
authors: Z
authors: Cheng
authors: Ying
authors: Y
authors: Zhu
authors: Dongmei
authors: D
authors: Su
authors: Jing
authors: J
authors: Wang
authors: Longfei
authors: L
authors: Cheng
authors: Beili
authors: B
authors: Chen
authors: Zhaolian
authors: Z
authors: Wei
authors: Ping
authors: P
authors: Zhou
authors: Binbin
authors: B
authors: Wang
authors: Xu
authors: X
authors: Ma
authors: Yunxia
authors: Y
authors: Cao
mesh_terms: D000328:Adult; D002681:China; D015331:Cohort Studies; D019295:Computational Biology / Q000379:methods; D004252:DNA Mutational Analysis; D005260:Female; D057809:HEK293 Cells; D000080905:Homeobox A10 Proteins; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D009095:Mullerian Ducts / Q000002:abnormalities*; D005810:Multigene Family; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D015533:Transcriptional Activation; D014599:Uterus / Q000473:pathology
chemical_list: D000080905:Homeobox A10 Proteins; D018398:Homeodomain Proteins; C069634:HOXA10 protein, human