Table 5.

Familial data for TCF2-positive patientsa

PatientTCF2 AlterationFamilial Genetic AnalysisRenal AnomaliesOther Anomalies
1DELDEL-FCystic solitary kidney + CRFCystic solitary kidney + CRFBilateral via deferens agenesis
S1DELDEL-F
2DELNA
S2DELNA
3DEL
4DEL
5DELDEL-MCholestasis, uterus bicornis
6DEL
7DEL
8DEL
9DELBilateral cortical cysts + CRF
10DELex4DELex4-FNA
11DELNABilateral cortical cysts
12MUTMUT-M
13DELNARenal cysts
14MUTInfertility
15DELNA
16DELNA
  • a CRF, mild chronic renal failure; DEL, heterozygous deletion of the complete TCF2 gene; F, deletion in the father; M, deletion in the mother; MUT, mutation; NA, not available; —, no TCF2 gene anomaly.