Table 1.
Incidence of Specific Anomalies Observed in MozΔ/Δ Mutant Neonatal Mice Compared to Incidence Reported in Patients with DGS and Tbx1 Mouse Mutants
| Finding |
MozΔ/Δ Mouse Neonatesa |
Patients with DGS (%)b |
Mouse Neonates within a Series of Tbx1 Mutant Alleles (%)c |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Number/Total | % | Botto et al. (2003) | Kobrynski and Sullivan (2007) | −/− | Neo/Neo | −/Neo2 | Neo2/Neo | Neo2/Neo2 | +/− | +/Neo | +/Neo2 | |
| Any major finding | 33/33 | 100 | 100 | – | 100 | 100 | 100 | 100 | 100 | – | – | – |
| Palatal anomalies | 33/33 | 100 | 16 | 69–100 | 100 | – | – | – | – | – | 0 | – |
| Cleft bony palate | 33/33 | 100 | – | 11 | 100 | – | – | – | – | – | 0 | – |
| Absent or hypoplastic thymus | 33/33 | 100 | 28 | – | 100 | √ | √ | 100 | 100 | 41 | √ | 29 |
| Skeletal | 33/33 | 100 | 9 | 17–19 | 100 | – | – | – | – | – | – | – |
| Vertebrae anomalies | 33/33 | 100 | 7 | 19 | 100 | – | – | – | – | – | – | – |
| Cardiovascular defects | 19/19 | 100 | 81 | 49–83 | 100 | – | – | – | – | – | – | – |
| Cardiac defects | 18/19 | 95 | – | – | 100 | 100 | 100 | 85 | – | – | – | – |
| Ventricular septum defect | 18/19 | 95 | 69 | 30–36 | 100 | 100 | 100 | 85 | – | – | – | – |
| Atrioventricular septum defect | 3/12 | 25 | 3 | – | – | – | – | – | – | – | – | – |
| Aortic arch defects | 14/19 | 74 | 63 | – | 100 | 100 | 90 | √ | 100 | 38 | 42 | 11 |
| Interrupted aortic arch | 14/19 | 74 | 23 | 14–15 | 87 | – | – | – | 20 | 3 | – | 0 |
| Right descending aorta | 5/19 | 26 | 43 | – | 13 | – | – | – | – | – | – | – |
a
Data are derived from this study.
b
Data are derived from Botto et al. (2003), who examined 35 patients with DGS (43 with respect to some findings), and Kobrynski and Sullivan (2007), who summarized data from multiple sources. Note the high degree of variation among patients with DGS.
c
Data are derived from Jerome and Papaioannou (2001), Vitelli et al. (2002), Xu et al. (2004), and Zhang and Baldini (2008). Tbx1 mRNA ranges from 0% in the Tbx1−/− to 70% of wild type in the Tbx1+/Neo2. √ indicates that defect is present but penetrance not stated. – indicates t hat no data are available.