RET haplotypes in Haddad syndrome and congenital central hypoventilation syndrome
| Haplotypes | Haddad (n = 88 chromosomes) | CCHS (n = 198 chromosomes) | χ2 (1 ddl) |
|---|---|---|---|
| ATA is the hypomorphic, HSCR predisposing RET haplotype and GCG the protective RET haplotype. | |||
| CCHS, congenital central hypoventilation syndrome; HSCR, Hirschsprung’s disease. | |||
| Predisposing | |||
| ATA | 34 | 42 | |
| ATG | 1 | 0 | |
| Total | 35 | 42 | |
| Protective | |||
| GCG | 49 | 152 | |
| GCA | 2 | 4 | 11.73; p<0.001 |
| Total | 51 | 156 | |
| Neutral | |||
| ACA | 2 | 0 | |