Table 1 Kagami–Ogata syndrome cases with maternal allele deletions on chromosome 14q32
Reference (year) | Patient (n) | Sex (M:F) | Inheritance mode | Sizes of deletion | Affected ICRs of maternal origin | Prenatal features | Postnatal features | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IG-DMR | MEG3-DMR | Polyhydramnios | Omphalocele | Placentomegaly | Preterm labor | Respiratory distress | Feeding difficulties | Developmental delay | Hypotonia | Depressed nasal bridge | Prominent philtrum | Short webbed neck | Small bell-shaped thorax with coat-hanger ribs | |||||
Kagami et al. [16] (2008) | 2 | 1:1 | Inherited | 108.8 kb | Deleted | Deleted | + | - | + | + | NA | + | + | NA | NA | NA | + | + |
1 | 0:1 | NA | 474.6 kb | Deleted | Deleted | + | - | + | + | NA | + | + | NA | NA | NA | + | + | |
1 | 1:0 | NA | 6.5 Mb | Deleted | Deleted | + | - | + | + | NA | + | + | NA | NA | NA | + | + | |
1 | 0:1 | Inherited | 411.4 kb | Deleted | Deleted | + | - | + | + | NA | + | + | NA | NA | NA | + | + | |
Kagami et al. [5] (2010) | 1 | 0:1 | Inherited | 8.6 kb | Deleted | No deletion | + | + | + | + | + | + | + | NA | + | + | + | + |
1 | 0:1 | NA | 4.3 kb | No deletion | Deleted | + | + | - | + | + | + | NA | NA | + | - | + | + | |
Classen et al. [22] (2013) | 1 | 1:0 | de novo | 1.143 Mb | Deleted | Deleted | NA | NA | NA | - | + | + | + | + | NA | NA | NA | + |
Beygo et al. [23] (2015) | 1 | 1:0 | de novo | 165 kb | No deletion | Deleted | + | NA | - | + | + | + | + | + | NA | NA | NA | + |
2 | 2:0 | Inherited | 5.8 kb | No deletion | Deleted | + | NA | NA | + | + | + | NA | NA | + | + | + | + | |
Rosenfeld et al. [17] (2015) | 1 | 0:1 | Inherited | 122 kb | No deletion | No deletion | + | - | - | + | NA | NA | NA | NA | - | NA | NA | + |
1 | 0:1 | Inherited | 154 kb | No deletion | No deletion | + | - | - | + | NA | NA | NA | + | + | NA | NA | + | |
Corsello et al. [24] (2015) | 1 | 0:1 | de novo | 160 kb | No deletion | No deletion | + | - | NA | + | + | + | NA | + | + | + | + | + |
Van Der Werf et al. [25] (2016) | 2 | 1:1 | Inherited | 65.9 kb | No deletion | No deletion | + /NA (1:1) | - | NA | + | ± (1:1) | ± (1:1) | - | + | NA | NA | NA | + |
2 | 2:0 | Inherited | 130 kb | Deleted | Deleted | + | - | NA | + | ± (1:1) | ± (1:1) | + | + | NA | NA | NA | + | |
Luk [18] (2017) | 2 | 1:1 | Inherited | 1.2 Mb | Deleted | Deleted | + | - | NA | + | + | + | + | NA | + | + | + | + |
Jung et al. [14] (2018) | 1 | 0:1 | Inherited | 133 kb | No deletion | Deleted | + | - | - | - | + | + | + | + | + | NA | NA | + |
Huang et al. [9] (2019) | 1 | 1:0 | de novo | NA | NA | NA | + | + | NA | + | + | + | NA | + | + | NA | NA | + |
Altmann et al. [26] (2020) | 1 | 0:1 | NA | 336 kb | Deleted | Deleted | + | + | NA | + | + | - | + | + | NA | + | NA | + |
Sabria-Back et al. [19] (2022) | 1 | NA | Inherited | 108 kb | Deleted | Deleted | + | + | NA | + | + | NA | NA | NA | NA | + | NA | + |
Hu et al. [15] (2022) | 1 | NA | Inherited | 732.3 kb | Deleted | Deleted | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
Sirera et al. [27] (2023) | 1 | 0:1 | Inherited | 117 kb | No deletion | No deletion | + | NA | - | - | - | + | NA | + | - | - | - | + (without coat-hanger ribs) |
Kilich et al. [21] (2024) | 1 | 0:1 | de novo | 203 bp | No deletion | Partially deleted | + | - | NA | + | + | + | + | + | + | - | + | + |
This case | 2 | 2:0 | Inherited | 268.2 kb | Deleted | Deleted | + | + | - | + | + | + | NA | NA | + | + | + | + |