Human genetics of truncus arteriosus

Hiroyuki Yamagishi

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Citations (Scopus)


Human genetic studies have revealed that truncus arteriosus is highly associated with 22q11.2 deletion syndrome. Other congenital malformation syndromes and mutations in genes encoding NKX and GATA transcription factors have also been reported as its etiology.

Original languageEnglish
Title of host publicationCongenital Heart Diseases
Subtitle of host publicationThe Broken Heart: Clinical Features, Human Genetics and Molecular Pathways
PublisherSpringer-Verlag Wien
Number of pages10
ISBN (Electronic)9783709118832
ISBN (Print)9783709118825
Publication statusPublished - 2015 Jan 1


  • 22q11.2 deletion syndrome
  • ASD
  • CHARGE syndrome
  • CHD7
  • DiGeorge syndrome
  • Diabetic mother
  • GATA transcription factors
  • GATA4
  • GATA5
  • GATA6
  • NKX2-5
  • NKX2-6
  • Neural crest cells
  • PLXNA2
  • SEMA3C
  • Second heart field
  • TBX1
  • TOF
  • Tetralogy of Fallot
  • Truncus arteriosus
  • VACTERL syndrome
  • VSD

ASJC Scopus subject areas

  • General Biochemistry,Genetics and Molecular Biology
  • General Medicine


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