Human genetics of truncus arteriosus

Hiroyuki Yamagishi

doi:10.1007/978-3-7091-1883-2_47

Human genetics of truncus arteriosus

Hiroyuki Yamagishi

Department of Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Citation (Scopus)

Abstract

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 language	English
Title of host publication	Congenital Heart Diseases: The Broken Heart: Clinical Features, Human Genetics and Molecular Pathways
Publisher	Springer-Verlag Wien
Pages	559-568
Number of pages	10
ISBN (Electronic)	9783709118832
ISBN (Print)	9783709118825
DOIs	https://doi.org/10.1007/978-3-7091-1883-2_47
Publication status	Published - 2015 Jan 1

Keywords

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

ASJC Scopus subject areas

Biochemistry, Genetics and Molecular Biology(all)
Medicine(all)

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title = "Human genetics of truncus arteriosus",

abstract = "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.",

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

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