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Table 5 Detection of variants in fetuses with CHD using WES

From: Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study

Case

Ultrasound findings

Additional anomalies

Gene

Nucleotide change

Amino acid change

Zygosity

Clinical classify

Inherited mode

Disease

#133

RAA

GLI3

c.2308delG

p.A770fs

Het

LP

AD

Pallister-Hall syndrome

#79

AVSD

SCN5A

c.4357C > T

p.Q1453X

Het

LP

AD

Brugada syndrome 1

#25

VSD

Urinary tract system,Skeletal system

NIPBL

c.5220delA

p.T1740fs

Het

P

AD

Cornelia de Lange syndrome 1

#159

IAA, AVSD

FOXF1

c.853_854delAT

p.Ile285fs

Het

P

AD

Persistent fetal circulation syndrome

#170

VSD

SCN5A

c.362G > A

p.Arg121Gln

Het

P

AD

Brugada syndrome 1

#166

PA

GATA6

c.551G > A

p.Ser184Asn

Het

LP

AD

Atrial septal defect 9

#62

VSD,d-TGA,TA

MYH7

c.4076G > A

p.R1359H

Het

VUS

AD

#19

VSD,CA

CITED2

c.589A > G

p.S197G

Het

VUS

AD

#132

VSD

Mild ventriculomegaly

NOTCH1

c.7171C > T

p.Q2391X

Het

VUS

AD

#161

AS

NOTCH1

c.5339_5346dupAGAAGAAG

p.Glu1785fs

Het

VUS

AD

#168

VSD

COL9A3

c.622G > A

p.Gly208Ser

Het

VUS

AD

#171

TOF

PRNP

c.622C > T

p.Arg208Cys

Het

VUS

AD

#192

VSD

HDAC

c.1 + 1G > A

 

Het

VUS

AD

#194

Heterotaxy

Cystic hygroma

DNAH9

c.1997G > T

p.Trp666Leu

Het

VUS

AD

#200

Heterotaxy

DNAH9

c.14_34delAGGAGCGGGCCGCGC

p.Glu5_Ala11del

Het

VUS

AD

#98

TOF

CCD22

c.664C > T

p.R222W

Het

VUS

AD

#106

VSD, CA

PRKD1

c.2569G > C

p.E857Q

Het

VUS

AD

Skeletal system,

MYH6

c.4036C > T

p.R1346W

Het

VUS

AD

COL5A1

c.2768C > T

p.P923L

Het

VUS

AD

#51

HLHS

GLI3

c.2587C > T

p.R863C

Het

VUS

AD

#101

VSD

Thickened nuchal fold

SOS2

c.3812C > T

p.P1271L

Het

VUS

AD

  1. Het, heterozygous; AD, autosomal dominant; AR, autosomal recessive; LP, likely pathogenic; P, pathogenic; VUS, variants of uncertain significance. VSD, ventricular septal defect; TGA, transposition of the great arteries; CA, coarctation of aorta; RAA, right aortic arch; AVSD, atrioventricular septal defect; TOF, tetralogy of fallot; HLHS, hypoplastic left heart syndrome; IAA, interruption of aortic arch; AS, aortic stenosis; PA, pulmomary stenosis; transposition of the great arteries; CA, coarctation of aorta; RAA, right aortic arch; AVSD, atrioventricular septal defect; TOF, tetralogy of fallot; HLHS, hypoplastic left heart syndrome; IAA, interruption of aortic arch; AS, aortic stenosis; PA, pulmomary stenosis