No. | Sex | Mutation 1 | Mutation 2 | I | M | A | Ge | D | Others |
1 | M | c.2091dupC (p.Phe699Valfs*11) | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | Y | Y | Y | Scoliosis, osteopaenia, small patella, seizures, gastrostomy, eczema |
2 | F | c.2091dupC (p.Phe699Valfs*11) | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | Y | ― | Y | ― |
3 | M | c.62+1G>A | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | Y | Y | Y | Midline accessory incisor, osteopaenia, infant eczema |
4 | F | c.5940G>A (p.Trp1980*) | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | N | ― | Y | IgM paraproteinaemia |
5 | M | c.4728+1G>T | c.1686+32C>G (p.Asn563Valfs*16) | Y | NA | Y | Y | Y | Hypopituitarism, T-cell lymphoma, gastrostomy, absent patella |
6 | F | c.3264_3275+13del | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | Y | ― | Y | Bilateral coxa valga, 11 ribs, 6 lumbar vertebrae, scoliosis, gastrostomy, infant eczema |
7 | M | c.1A>T | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | Y | Y | N | Hypopituitarism, atrial septal defect, brachydactyly, gastrostomy |
8 | M | c.1A>T | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | N | Y | Y | DDH, gastrostomy |
9 | F | c.1A>T | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | N | ― | Y | DDH, gastrostomy |
10 | F | c.3019G>C (p.Ala1007Pro) | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | Y | ― | N | DDH, 11 ribs, clinodactyly, osteopaenia, café au lait patches |
11 | F | c.5265delG (p.Ile1756Serfs*5) | c.1686+32C>G (p.Asn563Valfs*16) | Y | NA | Y | ― | Y | Café au lait patches |
12 | M | c.5265delG (p.Ile1756Serfs*5) | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | Y | ― | N | ― |
13 | F | c.2049C>G (p.Tyr683*) | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | Y | Y | N | DDH, café au lait patches |
14 | M | c.6518_6519delCT (p.Ser2173Phefs*130) | c.1686+32C>G (p.Asn563Valfs*16) | Y | Y | Y | ― | Y | Gastrostomy, hypercalcaemia in infancy, café au lait patches, DDH, kyphoscoliosis |
15 | M | c.801+2T>C | c.1686+32C>G (p.Asn563Valfs*16) | Y | NA | Y | Y | Y | Café au lait patches, seizures, osteopaenia, osteoporosis, nodular sclerosis, Hodgkin’s lymphoma |
16 (P1) | F | c.711_713del (p.Lys237_Ile238delinsAsn) | c.1226+234G>A (p.Trp410*) | Y | NA | Y | ― | Y | Café au lait patches, DLBCL |
17 (P2) | M | c.2593T>G (p.Trp865Gly) | c.1226+234G>A (p.Trp410*) | Y | NA | Y | NA | Y | Growth hormone insufficiency, DLBCL |
A, adrenal insufficiency; D, immunodeficiency; DDH, developmental dysplasia of the hip; DLBCL, diffuse large B-cell lymphoma; Ge, genitourinary abnormalities in men; I, intrauterine growth retardation; M, male; M, metaphyseal dysplasia or other skeletal abnormality; N, no; NA, not assessed; POLE, gene encoding DNA polymerase epsilon catalytic subunit 1; Y, yes.