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TableĀ 2 Characteristics of missense variants identified inĀ 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

6Ā months

TOF

FGF8

Exon1

Benign

29G>A

0.88

Polymorphism

0

F059

1Ā year

TOF/PFO/ASD

FG8

Exon6

Probably damage

551G>A

0

Disease causing

0.999

S033

5Ā months

SA/SV/CAVC/PS/PH

FGF10

Exon1

ā€“

68_70del

ā€“

Disease causing

ā€“

  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