Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 28-04-2010
Symbol ASD4
Location 7p14.2
Name atrial septal defects 4
Other name(s) atrial septal defects, TBX20 related
Corresponding gene TBX20
Other symbol(s) ASDT, ASDII
Main clinical features
  • congenital ostium secundum atrial septal defects, patent foramen ovale and cardiac valve defects
    • Genetic determination autosomal dominant
    Prevalence 4/170 patients with ASDII (Posch 2010)
    Function/system disorder cardiovascular
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   abnormal protein/gain of function  
    nonsense   abnormal protein/loss of function ile152-to-met mutation and gln195-to-stop mutation (Kirk 2007)
    Remark(s) ostium secundum atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD), and mutations in cardiac transcription factors, including TBX20, were identified as an underlying cause for ASDII (Posch 2010)