Table 3.
Pathogenic copy number variants and variants of unknown significance detected by Chromosome Microarray Analysis in children with CHD
Child | Agea | Phenotype | CNVs: Region and size | Known syndrome/Decipher number/OMIM number | Significant genes (bold fonts) /candidate genes relating to CHDb | |
---|---|---|---|---|---|---|
Cardiac diagnosis | MCA or ID/DD | |||||
Pathogenic CNVs | ||||||
1 | 8 y | ASD | ID | Dup 11q24.2-q25 (8.5 Mb) | Decipher number 255590 | None |
Del 1q43-q44 (6.2 Mb) | Decipher number 284767 | None | ||||
2 | 7 m | PS + ASD | None | Del 22q11.21 (3.2 Mb) | 22q11 deletion syndrome | TBX1 |
3 | 10 m | PDA | Congenital anal atresia + DD | Dup 3p26.1-p24.3 (13.8 Mb) | Decipher number 260758 | CRELD1 ; RAF1 |
Del 6q13-q14.1 (5.2 Mb) | Decipher number 249539 | None | ||||
Dup 17q12 (1.4 Mb) | Decipher number 278456 | None | ||||
4 | 4 y | PDA | Leukodystrophy | Del 1p36.33-p36.31(4.8 Mb) | 1p36 microdeletion syndrome | DVL1;SKI |
5 | 13 m | ASD | DD | Del 15q24.1-q24.2 (3.1 Mb) | 15q24 recurrent microdeletion syndrome | STRA6 |
6 | 5 y | PS | ID | Del 15q11.2-q13.1 (4.9 Mb) | Angelman/Prader-Willi syndrome | None |
7 | 5 m | VSD | DD | Del 4p16.3-p16.2 (5.7 Mb) | Wolf-Hirschhorn syndrome | EVC2; EVC |
8 | 2 m | ASD | Laryngeal cartilage dysplasia | Del 22q11.21 (2.4 Mb) | 22q11 deletion syndrome | TBX1 |
9 | 2 y | VSD | ID | Del 22q11.21 (3.2 Mb) | 22q11 deletion syndrome | TBX1 |
10 | 14 m | ASD | None | Del 22q11.21 (1.4 Mb) | 22q11 deletion syndrome | TBX1 |
11 | 2 y | ASD | Cleft palate + ID | Dup 18q12.3 (0.64 Mb) | Schinzel-Giedion midface retraction syndrome | SETBP1 |
12 | 2 y | AS + PS | DD | Del 7q11.23 (1.4 Mb) | Williams-Beuren syndrome | ELN |
13 | 3 y | TOF + PLSVC + Pericardial defect | Diaphragmatic hernia + ID | Dup 2q12.3 (0.42 Mb) | Decipher number 287980 | None |
14 | 1 m | IAA,A + VSD | fingers of both hands and left toe deformity | Dup Xp22.2 (0.72 Mb) | Opitz G/BBB syndrome | MID1 |
15 | 1 y | PS + VSD | ID | Del 22q11.21 (3.2 Mb) | 22q11 deletion syndrome | TBX1 |
16 | 15 m | PDA | DD | Del 1p36.33 (0.35 Mb) | Decipher number 106 | None |
Dup 17q25.1-q25.3 (6.4 Mb) | Decipher number 249584 | None | ||||
17 | 18 m | ASD | Cleft palate + DD | Del 4p16.3-p16.1 (7.6 Mb) | Wolf-Hirschhorn Syndrome | EVC2; EVC |
18 | 11 d | IAA, A + VSD | None | Del 7q11.23 (1.4 Mb) | Williams-Beuren syndrome | ELN |
19 | 8 m | AS + PS | DD | Del 7q11.23 (1.4 Mb) | Williams-Beuren syndrome | ELN |
20 | 2 y | PS | None | Dup 15q21.1 (1.58 Mb) | Marfan syndrome | FBN1 |
21 | 3 y | TOF | Absence of corpus callosum + cerebellar vermis hypoplasia + ID | Del 1q43-q44 (7.6 Mb) | Decipher number 249647 | None |
Dup 10p15.3-p14 (6.7 Mb) | Decipher number 278831 | None | ||||
22 | 3 y | COA + VSD + ASD | ID | LOH 6q24.1-q24.2 (5.2 Mb) | Decipher number 290225 | CITED2 |
23 | 1 m | AS | Hemivertebra + Adduction deformity of thumb + Polydactyly + Funnel chest | Del 8q23.3-q24.11(1.24 Mb) | Cornelia de Lange syndrome 4 | RAD21 |
Dup 11p15.3-15.2 (0.75 Mb) | None | None | ||||
24 | 2 y | VSD | ID | Del 22q11.21 (3.2 Mb) | 22q11 deletion syndrome | TBX1 |
25 | 2 y | PS | ID | Del 7q11.23 (1.5 Mb) | Williams-Beuren syndrome | ELN |
26 | 2 m | AS | None | Del 7q11.23 (1.5 Mb) | Williams-Beuren syndrome | ELN |
27 | 2 m | AS + PS | None | Del 7q11.23 (1.4 Mb) | Williams-Beuren syndrome | ELN |
28 | 7 m | PDA | Cleft palate | Dup 22q11.21 (2.5 Mb) | 22q11 duplication syndrome | TBX1 |
29 | 6 m | ASD + VSD | None | Dup 17q25.1-q25.3 (8.5 Mb) | Decipher number 254723 | None |
Del 20q13.33 (1.3 Mb) | Decipher number 2615 | None | ||||
Variants of unknown significance | ||||||
30 | 1 m | CoA + Heart Enlargement | None | Dup 11p15.4 (0.18 Mb) | None | STIM1 |
31 | 1 m | AS + VSD | None | Dup 10q21.3 (0.4 Mb) | None | CTNNA3 |
32 | 1 m | D-TGA + VSD + ASD | None | Dup 6q22.31 (0.36 Mb) | None | PLN |
ASD atrial septal defect, PDA patent ductus arterious, PS pulmonary stenosis, VSD ventricular septal defect, TOF tetralogy of Fallot, PLSVC persistent left superior vena cava, AS aortic stenosis, IAA,A interruption arterial arch, A type, COA coarctation of the aorta, D-TGA d-transposition of the great arteries, DD development delay, ID intellectual disabilities
aAge column: y, years; m, months; d, days
bAccordion to CHD wiki (http://homes.esat.kuleuven.be/~bioiuser/chdwiki/index.php/Main_Page)and OMIM database (http://www.omim.org)