Table 2. Significant genotype–phenotype correlations in the three most largest recent correlation studies on BWS.
| Genotype | Ibrahim, 2014 (n=507)13 | Brioude, 2013 (n=407)10 | This study (n=318) |
|---|---|---|---|
| IC2-LoM | n=321 Macroglossia Omphalocele Ear malformations Nevus flammeus Malignant tumors 0.9% (1 Wilms' tumor, 1 hepatoblastoma, 1 rhabdomyosarcoma) | n=257 Omphalocele Ear malformations Nevus flammeus Malignant tumors 3.1% (2 Neuroblastoma, 2 hepatoblastoma, 1 sarcoma, 1 rhabdomyosarcoma, 1 thyroid carcinoma, 1 melanoma) | n=190 Macroglossia Postnatal overgrowth Omphalocele Ear malformations Nevus flammeus Preterm birth Malignant tumors 2.1% (2 neuroblastoma, 1 rhabdomyosarcoma, 1 germinoma) |
| UPD | n=135 Hemihyperplasia Umbilica hernia Malignant tumors 6.7% (3 Wilms' tumora, 5 Hepatoblastoma, 1 adrenal cortical carcinoma) | n=81 Hemihyperplasia Organ enlargement Hypoglycemia Malignant tumors 17.3% (10 Wilms' tumor, 2 adrenal cortical carcinoma, 2 hepatoblastoma, 1 rhabdomyosarcoma, 1 neuroblastoma, 1 acute lymphoid leukemia) | n=87 Hemihyperplasia Umbilical hernia Renal anomalies Malignant tumors 14.9% (5 Hepatoblastoma, 3 Wilms' tumor, 2 neuroblastoma, 1 pancreatoblastoma, 1 hemangiotelioma, 1 adrenal cortical carcinoma) |
| IC1-GoM | n=47 Diastasis recti Malignant tumors 8.5% (4 Wilms' tumor 1 hepatoblastomab) | n=35 Neonatal overgrowth Hemihyperplasia Organ enlargement Hypoglycemia Malignant tumors 28.6% (10 Wilms' tumor) | n=31 Neonatal overgrowth Macroglossia Diastasis recti Organ enlargement Renal and ureteral anomalies Polyhydramnios Benignant neoplasms Malignant tumors 25.8% (7 Wilms' tumor, 1 pancreatoblastoma) |
| CDKN1C variants | Not tested | n=34 Omphalocele Ear malformations Nevus flammeus Malignant tumors 8.8% (1 neuroblastoma, 1 ganglioneuroma, 1 acute lymphoid leukemia) | n=10 Postnatal overgrowth Omphalocele Ear malformations Nevus flammeus Preterm birth No tumors reported |
a
One patient with a 11p15.5 duplication was included in the UPD group for simplicity.
b
The patient is reported to have been diagnosed with both Wilms' tumor and hepatoblastoma.