Table 3.
Mutation analysis of deletions
| Kindred or subject | Methylation pattern | TaqMan CNV | Deletion by aCGH | Breakpoints by Sanger sequencing | |
|---|---|---|---|---|---|
| Left | Right | ||||
| F1 | NNL | 1 copy of STX16 exons 3, 4, and 5 | STX16 and NPEPL1 | chr20:57,151,892-57,289,110 | chr20:57,289,120-57,358,140 |
| F2 | NNL | 1 copy of STX16 exons 4 and 5 | STX16 exons 4-6 | chr20:57,243,567- 57,243,739 | chr20:57,246,545- 57,246,717 |
| F3 | NNL | 1 copy of STX16 exons 4 and 5 | STX16 exons 4-6 | chr20:57,243,567- 57,243,739 | chr20:57,246,545- 57,246,717 |
| F4 | NNL | 1 copy of STX16 exons 4 and 5 | STX16 exons 4-6 | chr20:57,243,567- 57,243,739 | chr20:57,246,545- 57,246,717 |
| F5 | NNL | 1 copy of STX16 exons 4 and 5 | STX16 exons 4-6 | chr20:57,243,567- 57,243,739 | chr20:57,246,545- 57,246,717 |
| F6 | NNL | Normal | ND | ||
| F7 | NNL | 1 copy of STX16 exons 4 and 5 | STX16 exons 4-6 | 20:57,243,741- 57,243,927 | chr20:57,246,719-57,246,905 |
| F8 | NNL | 1 copy of STX16 exons 4 and 5 | STX16 exons 4-6 | chr20:57,243,567- 57,243,739 | chr20:57,246,545- 57,246,717 |
| F9 | HLL | Normal | ND | ||
| F11 | HNL | 1 copy of NESP | NESP | chr20:57,406,458-57,406,461 | chr20:57,415,988-57,415,991 |
| F12 | NNL | 1 copy of STX16 exons 4 and 5 | STX16 exons 4-6 | chr20:57,243,567- 57,243,739 | chr20:57,246,545- 57,246,717 |
| S23 | NNL | 1 copy of STX16 exons 4 and 5 | STX16 exons 4-6 | chr20:57,243,567- 57,243,739 | chr20:57,246,545- 57,246,717 |
| S50 | NNL | 1 copy of STX16 exons 4 and 5 | STX16 exons 4-6 | chr20:57,243,567- 57,243,739 | chr20:57,246,545- 57,246,717 |
Abbreviations: aCGH, comparative genomic hybridization using a highly customized array; CNV, copy number variation; HNL, high, normal, and low; NNL, normal, normal, and low.