Table 1 CNVs involving RBFOX1 gene on chromosome 16
Case | Start* (bp) | Stop*(bp) | Size (bp) | Del/Dup | Affected exon(s) | Inheritance and comments |
|---|---|---|---|---|---|---|
1 | 6,296,453 | 6,317,524 | 21,071 | Del | 2 | NT, a diagnosis of Mowat-Wilson syndrome |
2 | 6,398,588 | 6,417,167 | 18,579 | Del | - | NT |
3 | 6,500,668 | 6,737,047 | 236,379 | Del | 3 | Inconclusive |
4 | 6,567,938 | 6,609,613 | 41,675 | Del | - | NT |
5 | 6,597,626 | 6,759,803 | 162,177 | Del | 3 | Maternally inherited |
6 | 6,752,063 | 7,577,445 | 825,382 | Del | 4 to 9 | An additional 178 kb deletion of 1p31.3 (61,318,736-61,496,706); De novo for both deletions |
7 | 6,781,978 | 6,948,525 | 166,547 | Del | - | NT |
8 | 6,829,209 | 6,904,158 | 74,949 | Del | - | NT |
9 | 6,860,713 | 7,018,893 | 158,180 | Del | - | NT, a diagnosis of mild hemophilia A |
10 | 6,866,819 | 7,011,349 | 144,530 | Del | - | NT |
11 | 6,883,111 | 6,912,449 | 29,338 | Del | - | NT |
12 | 7,079,544 | 7,133,209 | 53,665 | Del | - | NT |
13 | 7,132,809 | 7,170,657 | 37,848 | Del | - | NT |
14 | 6,689,120 | 7,062,757 | 373,637 | Dup | 4, 5 | NT |