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Table 2 Characteristics of missense variants identified in FGF8 and FGF10

From: Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects

Patient Age Diagnosis Gene Location in gene Function Amino acid change SIFT Mutation taster PolyPhen-2
F150 6 months TOF FGF8 Exon1 Benign 29G>A 0.88 Polymorphism 0
F059 1 year TOF/PFO/ASD FG8 Exon6 Probably damage 551G>A 0 Disease causing 0.999
S033 5 months SA/SV/CAVC/PS/PH FGF10 Exon1 68_70del Disease causing
  1. TOF, tetralogy of Fallot; PFO, patent foramen ovale; ASD, atrial septal defect; SA, single atrium; SV, single ventricle; CAVC, complete atrioventricular canal; PS, pulmonary stenosis; PH, pulmonary hypertension