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Table 3 Clinical phenotypes of heterotaxy patients with CNVs carrying candidate genes

From: Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects

ID

Segments

Sizes (kb)

Copy numbers

Genes

Patients’ cardiac abnormalities

Extracardiac abnormalities

7

1q21.1 (145,625,128–145,927,662)

302.534

1 del

RNF115

D, SA, PAVC, LSVC

RAA, BI, right spleen, RSS, LSL

20

12q24.31 (123,357,010–124,310,519)

953.509

3 dup

TCTN2, DNAH10

D, SA, TA, TGA, PA, VSD, PDA, LSVC

RAA, BI, right spleen, RSS, LSL

40

14q24.2 (73,620,299–73,786,493)

166.194

3 dup

NUMB

D, DORV, PS, VSD, LSVC, SIV

RAA, BI, right spleen, RSS, LSL

59

6q26 (163,549,870–163,842,358)

292.488

3 dup

PACRG

D, SA, SV, MGA, PS, CAVC, LSVC, IRAA

LAA, BRB, asplenia, LSS, LCS

63

10q26.3 (134,358,785–134,921,135)

562.35

4 dup

TTC40

D, DORV, PS, VSD, PDA, LSVC, SIV

RAA, BI, right spleen, RSS, LSL

  1. dup duplication, del deletion, PDA patent ductus arteriosus, PS pulmonary stenosis, VSD ventricle septum defect, CAVC complete atrioventricular canal, PAVC partial atrioventricular canal, D dextrocardia, SA single atrium, SV single ventricle, TA tricuspid atresia, PA pulmonary atresia, TGA/MGA translocation of great arteries/malposition of great arteries, DORV double outlet right ventricle, IRAA isomerism of right atrial appendages, SIV superior-inferior ventricle, LSVC left superior vena cava, RAA right aortic arch, LAA left aortic arch, BI bronchial inversus, BRB bilateral right bronchi (short), RSS right-sided stomach, LSS left-sided stomach, LSL left-sided liver, LCS liver centrally situated