Table 2
Clinical and molecular characterisation of our CCHS patients
| Country of origin | Patients | Ventilation | ANSD | Gastro-intestinal symptoms | Mutation | Transmission |
|---|---|---|---|---|---|---|
| I, Italy; G, Germany; NL, The Netherlands; F, familial case; LO-CHS, late onset CHS; O, ocular anomalies | ||||||
| *distinguishes expansions of similar size but different localisation within the polyalanine stretch †Growth hormone deficiency; ‡died at 4 months; §tetralogy of Fallot; ne, not expanded | ||||||
| I | 01 LOCHS | during sleep | dup15 | de novo | ||
| I | 02 | during sleep | O | dup18 | de novo | |
| I | 03 | during sleep | dysrhythmia, loss of consciousness | dup18* | de novo | |
| I | 04 F | during sleep | O | constipation | dup15 | inherited |
| I | 05 | during sleep | O, decreased heart rate variability | dup21 | de novo | |
| I | 06 | during sleep | O | dup21 | de novo | |
| I | 07 | during sleep | dup18 | de novo | ||
| I | 08 | during sleep | dup18* | de novo | ||
| I | 09 | during sleep | dup18* | inherited | ||
| I | 10† | 24 hr | O | constipation | dup33 | de novo |
| G | 11 F | during sleep | dup15* | ? | ||
| G | 12 | during sleep | dup18* | ? | ||
| G | 13 | 24 hr | dup21 | ? | ||
| G | 14 | 24 hr | HSCR | dup39 | ? | |
| I | 15 LOCHS | during sleep | dup15 | de novo | ||
| I | 16 | during sleep | loss of consciousness | abdominal pain | dup15* | de novo |
| I | 17 LOCHS | during sleep | ne | |||
| I | 18 | during sleep | dup18* | de novo | ||
| I | 19 | during sleep | gastroesophageal reflux | dup15 | de novo | |
| I | 20 | during sleep | O, loss of consciousness, altered sweating | dysphagia | dup21 | ? |
| I | 21 | during sleep | O, dysrhythmia, loss of consciousness | constipation | insG | de novo |
| G | 22 | during sleep | HSCR | dup21 | de novo | |
| I | 23 | during sleep | altered perception of pain | constipation | dup15 | de novo |
| I | 24‡ | 24 hr | O | HSCR | del38 | de novo |
| NL | 25F | during sleep | ne | |||
| NL | 27§ | during sleep | delC | inherited | ||
| I | 28 | during sleep | O | dup18 | de novo | |
