Table 2.

Characteristics of patients with TCF2 mutations and respective morphologic anomaliesa

PatientGenderAge at Diagnosis (yr)CystsHypo/DysplasiaDilationGFR (ml/min per 1.73 m2)TCF2Alteration
P1M0Cb, M, MCD,↓HPb, HEbNo49Gln311X
P2F0Cb, M, MCD,↓HP, HEbNo94Gly76Cys
P3F1.1C, M,↓HPb, HEbNo96Ivs2 + 1G>C
P4M0Cb,↓HEbNo61Gln136X
S4F9Cb, M,↓,↑HPb, HEbNo91Gln136X
P5M0.5Cb,↓HPYes115Glu178fs
P6M0.3NoneHPb, HEbNo34Gly76Cys
P7M0.1NoneHEbNo102Leu16fs
P8F0.2Cb, M, MCD,↓HPb, HEbNo45DEL*
P9M0.1Cb, M, MCD,↓HP, HEbYes41DEL
P10M0Cb, M, MCD,↓HP, HEbYes58DEL
P11M0.1Cb, M, MCD,↓HPb, HENo55DEL
P12M0.2C, M, MCD,↓,↑HP, HEbNo83DEL
P13F1.3C, M, MCD,↓,↑HEYes110DEL
P14M1C, M,↓HPb, HEbYes97DEL
S14M3.8Cb,↓HPbNo106DEL
P15M0.2Cb,↓HEbYes54DEL
P16F0.1Cb,↓HEbYes69DEL
P17M0Cb,↓HEbYes63DEL
S17F0C,↓HEbNo60DEL
P18M0.2Cb,↓HEbNo128DEL
P19M0Cb,↓HEbNo155DEL
P20M14Cb,↓,↑NoneNo102DEL
P21F0.2NoneHPb, HEbNo86DEL
P22M0NoneHPb, HEbNo90DEL
  • a Probands are numbered P1 to P22, affected siblings are S4, S14, and S17 carrying the number of the respective proband. M, male; F, female; C, cortical cysts;

  • b , bilateral; M, medullary cysts; MCD, multicystic dysplasia; ↓ , microcysts <10 mm; ↑ , macrocysts ≥10 mm; HP, hypoplasia; HE, hyperechogenicity; DIL, dilations; DEL, heterozygous deletion of the complete TCF2 gene; DEL*, heterozygous deletion of exon 4.