Table 1.
Summary of de novo and rare inherited CNVs of interest in ASD probands
Sample ID | Cytoband | Coordinates (hg19) | Type of CNV | Genes affected | Inheritance |
---|---|---|---|---|---|
683-3 (female) |
2q37.1 |
Chr2: 233,651,280-233,673,273 |
22-kb deletion |
GIGYF2 |
De novo |
527-3 (male) |
4q28.1 |
Chr4: 124,063,146-125,045,116 |
982-kb duplication |
SPRY1, SPATA5 |
De novo |
517-3 (female) |
16p13.3 |
Chr16: 843,861-1,162,728 |
319-kb duplication |
7 genes |
De novo |
16p13.3 |
Chr16: 2,088,391-2,415,016 |
327-kb duplication |
15 genes |
De novo |
|
503-3 (male) |
16p11.2 |
Chr16: 28,819,029-29,051,191 |
232-kb deletion |
9 genes |
De novo |
692-3 (male) |
17p13.3, 17p13.2 |
Chr17: 2,455,643-3,449,869 |
994-kb duplication |
16 genes |
De novo |
567-3 (male) |
Xp21.1 |
ChrX: 31,805,650-31,959,887 |
154-kb deletion |
DMD |
De novo |
611-3 (male) |
Xp21.1 |
ChrX: 32,548,066-32,603,018 |
55-kb deletion |
DMD |
De novo |
552-3 (male) |
Xq13.2 |
ChrX: 72,319,907-72,353,391 |
33-kb deletion |
NAP1L6 |
De novo |
694-3 (male) |
4q22.2 |
Chr4: 94,144,621-94,172,410 |
28-kb deletion |
GRID2 |
Maternal |
9p21.1 |
Chr9: 28,491,679-28,630,598 |
139-kb deletion |
LINGO2 (intronic) |
Paternal |
|
511-3 (male) |
9p21.1 |
Chr9: 28,464,218-28,596,286 |
132-kb deletion |
LINGO2 |
Maternal |
686-3 (male) | 10p12.33 | Chr10: 18,240,592-18,313,842 | 73-kb deletion | SLC39A12 | Paternal |
All CNVs shown above have been confirmed via qPCR or a targeted TaqMan assay, and de novo status and inheritance was verified by testing both parental samples using these same methods.