Table 3.
Genetic characteristics of three patients with 11β-OHD.
| ID | Variation of CYP11B1 | Inheritance | Size of Deletion | Sequence profile around breakpoints a | Microhomology (Bases) |
|---|---|---|---|---|---|
| P1 | Deletion (chr8:143956945-143994517) | Maternal | 37.6kb | GGGAGCTCTTCTTCCTCTGGAATCCCTCTTCAACccctggggatt……gggagctcttctttctctggaatccctcttcaacGCCCTGGGGATTAA | 20 |
| NM_000497.3:c.1361G>A | Paternal | ||||
| P2 | Deletion (chr8:143958508-143967846) | Maternal | 9.3kb | GATTGGTATTGA CA TAaaaacagaca……ccaggccctgaagaagaagg TG CTGCAGAACGCCCGGGGG | none |
| NM_000497.3:c.1391_1393delTGC | Paternal | ||||
| P3 | Deletion (chr8:143958084-143958532) | Maternal | 448bp | TGCAGTGGCCAGGGACttctcccaggccctg……ggtgaggccagggacCCGGGCAGTGCTATGGGG | 10 |
| NM_000497.3:c.1150_1153delCGAG | Paternal | ||||
a
Small letters are deleted sequences, capital letters on each side are remaining sequences, underlined nucleotides indicate microhomology, and bold italic nucleotides are complementary.