Table 2.
Individuals with Biallelic Mutations in POLE Were Clinically Diagnosed with Primordial Dwarfism and Features of IMAGe Syndrome
| ID | Fam | Sex | Age | I | M+SI | A | Ge | −I | Other Features |
|---|---|---|---|---|---|---|---|---|---|
| P1 | 1 | M | 18 | Y | Y | Y | Y | Y | scoliosis, osteopenia, small patella, seizures, gastrostomy, eczema |
| P2 | 1 | F | 1 | Y | Y | Y | – | Y | – |
| P3 | 2 | M | 7 | Y | Y | Y | Y | Y | midline accessory incisor, osteopenia, infant eczema |
| P4 | 3 | F | 50 | Y | Y | N | – | Y | IgM paraproteinaemia |
| P5 | 4 | M | 12 | Y | NA | Y | Y | Y | hypopituitarism, T cell lymphoma, gastrostomy, absent patella |
| P6 | 5 | F | 10 | Y | Y | Y | – | Y | bilat coxa valga, 11 ribs, 6 lumbar vertebrae, scoliosis, gastrostomy, infant eczema |
| P7 | 6 | M | 13 | Y | Y | Y | Y | N | hypopituitarism, atrial septal defect, brachydactyly, gastrostomy |
| P8 | 7 | M | 3 | Y | Y | N | Y | Y | DDH, gastrostomy |
| P9 | 7 | F | 2 | Y | Y | N | – | Y | DDH, gastrostomy |
| P10 | 8 | F | 39 | Y | Y | Y | – | N | DDH, 11 ribs, clinodactyly, osteopenia, café au lait patches |
| P11 | 9 | F | 0.2 | Y | NA | Y | – | Y | café au lait patch |
| P12 | 9 | F | 12 | Y | Y | Y | – | N | – |
| P13 | 10 | M | 22 | Y | Y | Y | Y | N | DDH, café au lait patch |
| P14 | 11 | F | 18 | Y | Y | Y | – | Y | gastrostomy, hypercalaemia in infancy, café au lait patches, DDH, kyphoscoliosis |
| P15 | 12 | M | 31 | Y | NA | Y | Y | Y | café au lait patches, seizures, osteopenia, osteoporosis, nodular sclerosis, Hodgkin’s lymphoma |
Abbreviations: ID, individual number; Fam, family number; I, intrauterine growth restriction; M+SI, skeletal involvement: metaphyseal dysplasia or other skeletal abnormalities reported in CDKN1C IMAGe-affected individuals (NA, not assessed); A, adrenal insufficiency; Ge, genitourinary abnormalities in males (– female, genitourinary anomalies not applicable); −I, immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; DDH, developmental dysplasia of the hip; Y, yes; N, no. See Tables S1–S4 for extended clinical data and morphometrics.