Table 2.
Large De Novo, Potential De Novo, and transmitted large CNVs in LSL. Shaded CNVs represent unbalanced translocations in a single individual. BAV - Bicuspid Aortic Valve; CoA - coarctation of the Aorta; MS- Mitral Stenosis; AVS - aortic valve Stenosis; AR - Aortic regurgitation; AO - Aortic obstruction; HLHS - Hypoplastic Left Heart Syndrome; SC- Shone Complex; TGA – Transposition of the Great Arteries; VSD – ventricular septal defect; Gend. – Gender; Ethn. – Self-reported ethnicity; Age – Age at recruitment.
| ID | Gend. | Ethn. | Age | Chromosome Location | Size (bp) | Cytoband | Copy No. |
LSL | Other | |
|---|---|---|---|---|---|---|---|---|---|---|
| De Novo | LO0607 | M | Ca | 8mo | chr10:81577613-88945341 | 7,367,728 | q23.1 - q23.2 | 1 | CoA, AO | |
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| LO1550 | M | H | 5dys | chr11:124323660-134934063 | 10,610,403 | q24.2 - q25 | 1 | CoA | Deceased; hypoplastic digits, bilateral renal cysts, single umbilical artery, cryptorchidism, del 11q24.1 detected at autopsy | |
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| LO1400 | F | H | 9dys | chr11:124870136-134934063 | 10,063,927 | q24.2 - q25 | 1 | HLHS | Deceased; unusual facial features, del 11q24.1 detected at autopsy | |
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| LO1705 | F | M | 1mo | chr18:75380175-78015180 | 2,635,005 | q23 | 1 | MS | Sib with AVS | |
| chr20:50494953-62801181 | 12,306,228 | q13.2 - q13.33 | 3 | |||||||
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| OS0200 | M | Ca | 10yrs | chr19:509569-1539267 | 1,029,698 | p13.3 | 3 | BAV | Irregular facial mass (resected) with soft-tissue calcification | |
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| LO1397 | F | Ca | 4mo | chr20:6981282-8343543 | 1,362,261 | p12.3 | 1 | SC | ||
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| One parent available | OS0491 | M | Ca | 10yrs | chr3:67615531-69019978 | 1,404,447 | p14.1 | 1 | CoA | |
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| UT0139 | M | Ca | 39 mo | chr4:177310481-188590745 | 11,280,264 | q34.3 - q35.2 | 1 | BAV, VSD | Had formal genetics consultation | |
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| UT1758 | F | Ca | 7 dys | chr6:148690764-151430051 | 2,739,287 | q24.3 - q25.1 | 1 | CoA, HLHS | ||
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| UT1089 | M | Ca | 12 yrs | chr8:7308659-11898209 | 4,589,550 | p23.1 | 3 | CoA | Autism Spectrum Disorder | |
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| OS0920b | F | Ca | 5mo | chr9:71301557-141066491 | 69,764,934 | q21.11 - q34.3 | 3 | HLHS, PS | Karyotype 46, XX; nrml FISH for 22q11.2 | |
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| LO0253* | F | Ca | 3mo | chr9:95580375-115042805 | 19,462,430 | q22.31 - q31.3 | 1 | CoA, TGA | Deceased - congenital abnormalities of kidneys and brain | |
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| UT0372 | M | Ca | 8 yrs | chr10:46202216-47703869 | 1,501,653 | q11.22 | 3 | CoA, BAV, AVS | ||
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| LO0545a | M | H | 6dys | chr11:129769925-134934063 | 5,164,138 | q24.3 - q25 | 3 | HLHS | ||
| chr11:127900579-129737988 | 1,837,409 | q24.3 | 1 | |||||||
|
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| OS0010a | M | Ca | 15 yrs | chr14:83028831-87815467 | 4,786,636 | q31.1 - q31.3 | 3 | BAV | Aortic root dilation, Pulmonary insufficiency | |
| chr7:118777401-153071114 | 34,293,713 | q31.31 - q36.2 | 1 | |||||||
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| OS0199 | M | Ca | 4 yrs | chr15:32922947-34807851 | 1,884,904 | q13.3 - q14 | 1 | BAV | Tourette's, ADHD | |
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| UT2188 | M | Ca | 4 mo | chr16:14975292-16363239 | 1,387,947 | p13.11 | 3 | CoA | Clinical microarray showed 16p13.11 dup; Laryngomalacia, Hemivertebra, FH of CHD | |
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| LO0445 | F | H | 5yrs | chr19:20788625-22175566 | 1,386,941 | p12 | 3 | CoA, AO | ||
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| UT0240 | F | Ca | 4 yrs | chr20:7533180-9196090 | 1,662,910 | p12.3 | 3 | AVS, BAV | Post-operative choreiform movements; Dysarthria | |
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| UT0690 | M | Ca | 6 yrs | chr22:18886915-21463730 | 2,576,815 | q11.2 | 3 | CoA | ||
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| Transmitted | LO0821 | M | Ca | NR | chr1:146152553-147784656 | 1,632,103 | q21.1 | 3 | MA, AVS | |
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| LO1821 | - | NR | chr1:146089254-147826789 | 1,737,535 | q21.1 -q21.2 | 1 | - | |||
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| OS0007 | M | Ca | 9yrs | chr2:111392259-112816047 | 1,423,788 | q13 | 3 | HLHS | Anxiety, depression, Post-traumatic stress Disorder | |
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| LO2313 | Ca | 18yrs | chr4:186366615-188924979 | 2,558,364 | q35.1 - q35.2 | 1 | AVS, AR, PVCs | |||
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| OS1625 | F | Ca | 1yr | chr6:149609-1533447 | 1,383,838 | p25.3 | 1 | AVS, MS | Platelet deficiency, sleep apnea, Chiari malformation type I, Epilepsy; sub-aortic membrane, tortuous aortic arch | |
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| OS0782 | M | Ca | 18yrs | chr15:20612840-22576118 | 1,963,278 | q11.2 | 3 | CoA | Anxiety | |
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| UT2628 | M | Ca | 4 yrs | chr15:22652330-23656946 | 1,004,616 | q11.2 | 1 | BAV, PDA | Uncle with Congenital Heart Disease | |
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| OS0939 | M | Ca | 9yrs | chr16:15092778-16303388 | 1,210,610 | p13.11 | 1 | CoA | Wolf-Parkinson-White syndrome, idiopathic epilepsy | |
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| UT0573 | F | Ca | 1 mo | chr16:15369019-18164698 | 2,795,679 | p13.11 - p12.3 | 3 | CoA, BAV | ||
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| LO0668 | M | H | 9.5yrs | chr18:6936251-8080357 | 1,144,106 | p11.31 - p11.23 | 3 | AS, BAV | ||
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| LO0210 | M | H | 1yr | chr19:27795706-29612355 | 1,816,649 | q12 | 3 | CoA, AO | Hemiparesis, developmental delay, seizures, microcephaly | |
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| LO0735 | M | H | 1.5yrs | chr21:28240392-29417762 | 1,177,370 | q21.3 | 3 | HLHS | Deceased; Scoliosis, microcephaly, neurogenic bladder | |
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| LO1186 | M | H | 15yrs | chr21:28244672-29422978 | 1,178,306 | q21.3 | 3 | CoA, AO | ||