Table 2.
Patient | Sex | Deletion size (mb) | Refseq genes involveda | Genomic location (GRch37/hg19) |
---|---|---|---|---|
P1 | Female | 2.878 |
STXBP1 (exons 16–20), ENG, SPTAN1, TOR1A and 72 others |
chr9:130439828–133320690 |
P2 | Female | 1.765 | STXBP1, ENG, SPTAN1, and 60 others | chr9:130281799–132208337 |
P3 | Male | 2.649 | STXBP1, ENG, SPTAN1, and 58 others | chr9:129473714–131633299 |
P4 | Male | 0.251 | STXBP1 and 10 others | chr9:130291275–130554161 b |
P5 | Female | 0.067 | STXBP1 (exons 1–4) | chr9:130353624–130421329 b |
P6 | Female | 1.619 | SPTAN1, TOR1A, and 44 others | chr9:130956099–132603590 b |
P7 | Male | 1.967 | TOR1A and 35 others | chr9:131406317–133482292 |
P8 | Male | 2.349 | TOR1A and 23 others | chr9:131472698–133975666 |
P9 | Male | 0.713 | SPTAN1 and 40 others | chr9:131103396–131850003 |
P10 | Male | 0.808 | STXBP1, ENG, and 23 others | chr9:129843508–130681956b |
For a complete list of RefSeq genes involved in each patient’s deletion, see Supplementary Table S2 online.
Exact coordinates confirmed by Sanger sequencing (see Supplementary Figure S1 online).