Table 1

Summary of clinical manifestations and POLE mutations in previously reported cases and patients with IMAGE-I syndrome in this study

No.SexMutation 1Mutation 2IMAGeDOthers
1Mc.2091dupC
(p.Phe699Valfs*11)
c.1686+32C>G (p.Asn563Valfs*16)YYYYYScoliosis, osteopaenia, small patella, seizures, gastrostomy, eczema
2Fc.2091dupC
(p.Phe699Valfs*11)
c.1686+32C>G (p.Asn563Valfs*16)YYYY
3Mc.62+1G>Ac.1686+32C>G (p.Asn563Valfs*16)YYYYYMidline accessory incisor, osteopaenia, infant eczema
4Fc.5940G>A (p.Trp1980*) c.1686+32C>G (p.Asn563Valfs*16)YYNYIgM paraproteinaemia
5Mc.4728+1G>Tc.1686+32C>G (p.Asn563Valfs*16)YNAYYYHypopituitarism, T-cell lymphoma, gastrostomy, absent patella
6Fc.3264_3275+13delc.1686+32C>G (p.Asn563Valfs*16)YYYYBilateral coxa valga, 11 ribs, 6 lumbar vertebrae, scoliosis, gastrostomy, infant eczema
7Mc.1A>Tc.1686+32C>G (p.Asn563Valfs*16)YYYYNHypopituitarism, atrial septal defect, brachydactyly, gastrostomy
8Mc.1A>Tc.1686+32C>G (p.Asn563Valfs*16)YYNYYDDH, gastrostomy
9Fc.1A>Tc.1686+32C>G (p.Asn563Valfs*16)YYNYDDH, gastrostomy
10Fc.3019G>C (p.Ala1007Pro)c.1686+32C>G (p.Asn563Valfs*16)YYYNDDH, 11 ribs, clinodactyly, osteopaenia, café au lait patches
11Fc.5265delG (p.Ile1756Serfs*5)c.1686+32C>G (p.Asn563Valfs*16)YNAYYCafé au lait patches
12Mc.5265delG (p.Ile1756Serfs*5)c.1686+32C>G (p.Asn563Valfs*16)YYYN
13Fc.2049C>G (p.Tyr683*)c.1686+32C>G (p.Asn563Valfs*16)YYYYNDDH, café au lait patches
14Mc.6518_6519delCT (p.Ser2173Phefs*130)c.1686+32C>G (p.Asn563Valfs*16)YYYYGastrostomy, hypercalcaemia in infancy, café au lait patches, DDH, kyphoscoliosis
15Mc.801+2T>Cc.1686+32C>G (p.Asn563Valfs*16)YNAYYYCafé au lait patches, seizures, osteopaenia, osteoporosis, nodular sclerosis, Hodgkin’s lymphoma
16 (P1)Fc.711_713del (p.Lys237_Ile238delinsAsn)c.1226+234G>A (p.Trp410*)YNAYYCafé au lait patches, DLBCL
17 (P2)Mc.2593T>G (p.Trp865Gly)c.1226+234G>A (p.Trp410*)YNAYNAYGrowth 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.