Table 1. Clinical features in the series of 17 FS patients with and without MYCN mutation.
| Mutated patients | AO2 | AO28 | AO37 | A056 | A060 | A065 | A067 | A068 | Total | |
|---|---|---|---|---|---|---|---|---|---|---|
| Sex | F | F | M | M | F | M | F | M | 4M/4F | |
| Familial history | − | + | − | − | + | − | + | − | 3/8 | |
| Head circumference at birth | −2 | −3 | −4 | −3 | −2 | −4 | −3 | −2 | 8/8 | |
| Postnatal microcephaly (SD) | −3 | −3 | −4 | −3 | −2 | −4 | −3 | −2 | 8/8 | |
| Weight and size at birth | 50th c. | 25th c. | 25–50th c. | 2550th c. | 25–50th c. | 25–50th c. | 25–50th c. | 25–50th c. | ||
| Postnatal growth retardation (SD) | −2 | −2.5 | −2 | −2 | −1 | −2 | 0 | 0 | 5/8 | |
| Mental retardation | Mild | Moderate | Mild | Mild | Mild | Moderate | Mild | Mild | 8/8 | |
| Micrognatia | − | − | − | − | − | + | + | − | 2/8 | |
| Brachymesophalangy II et V | + | + | + | + | + | + | + | + | 8/8 | |
| Toe syndactyly 2/3 | − | + | − | + | + | + | + | − | 5/8 | |
| Toe syndactyly 4/5 | + | + | + | − | − | + | + | − | 5/8 | |
| Oesophageal atresia | + | + | + | + | + | + | + | − | 7/8 | |
| Duodenal atresia | − | − | − | − | − | − | − | − | 0/8 | |
| Renal hypoplasia | + | − | + | − | − | − | − | − | 2/8 | |
| Congenital cardiac defect | ASD | VSD | − | − | − | − | − | − | 2/8 | |
| Deafness | − | − | − | − | − | − | − | − | 0/8 | |
| Asplenia | − | + | − | − | − | − | − | − | 1/8 | |
| Result of MYCN gene screening | c.1180G>A | c.1293delC | c.1110insG | c.928-930insGT | c.474-514del | c.1177C>T | c.134dupC | del 2p24.3 | 8/8 | |
|
Non-mutated patients |
AO3 |
AO4 |
AO22 |
AO35 |
AO36 |
AO39 |
AO41 |
AO42 |
AO43 |
Total |
| Sex | M | F | F | M | M | F | M | F | F | 4M/5F |
| Familial history | − | − | − | − | − | +a | +b | − | − | 2/9 |
| Head circumference at birth | –2.5 | 0 | −2 | 0 | −2.5 | 0 | –3 | −4 | −1 | 5/9 |
| Postnatal microcephaly (SD) | –2.5 | −2 | −2.5 | −2 | −2.5 | –3 | –3 | −4 | −2 | 9/9 |
| Weight and size at birth | 25–50th c. | 50th c. | 50th c. | 50th c. | 50th c. | 50th c. | 25–50th c. | 50th c. | 50th c. | |
| Postnatal growth retardation (SD) | −1 | −1 | − | −2 | −1.5 | 0 | −2.5 | −3 | 0 | 3/9 |
| Mental retardation | Mild | Moderate | Mild | Mild | Mild | Mild | Moderate | Mild | Mild | 9/9 |
| Micrognatia | − | + | − | + | − | − | − | − | − | 2/9 |
| Brachymesophalangy II et V | + | − | + | + | + | + | + | + | − | 7/9 |
| Toe syndactyly 2/3 | − | + | + | − | − | + | − | + | − | 4/9 |
| Toe syndactyly 4/5 | − | − | − | + | − | + | − | − | − | 2/9 |
| Oesophageal atresia | + | + | − | + | + | + | − | + | + | 7/9 |
| Duodenal atresia | − | − | − | + | − | − | − | − | − | 1/9 |
| Renal hypoplasia | − | − | − | − | − | − | − | − | − | 0/9 |
| Congenital cardiac defect | − | − | − | − | VSD, MA, AC | − | − | − | VSD | 1/9 |
| Deafness | − | − | − | + | − | − | − | − | − | 0/9 |
| Asplenia | − | − | − | − | − | − | − | − | − | 0/9 |
| Result of MYCN gene screening | − | − | − | − | − | − | − | − | − | 0/9 |
| Result of Nimblegen fine-tiling array | Normal | Normal | Normal | Normal | Normal | Normal | NP | NP | NP | 0/6 |
| Result of 244K genome wide array | Normal | Normal | Normal | Normal | Normal | NP | NP | NP | NP | 0/5 |
Abbreviations: AC, aortic coarctation; ASD, atrial septal defect; del, deletion; F, female; M, male; MA, mitral atresia; VSD, ventricular septal defect.
a
The father and a sister of AO39 are microcephalic and have digital anomalies (brachymesophalangy of the second and fifth fingers and brachysyndactyly of the toes). The sister has also learning disabilities.
b
The mother of AO41 is microcephalic and has anomalies in the hand (brachymesophalangy of the second and fifth fingers).