Fig. 2

Pedigree and sequencing analyses. Sanger sequencing of the WT1 exon 9 and intron 9 boundary in the affected individual and family members. The affected child (II-1, proband shown by arrow) harbored a single nucleotide substitution in the canonic donor KTS splice site of WT1 intron 9 (IVS9; c.1447 + 4C > T; RefSeq NM_024426.6:WT1 isoform D; ClinVar:000003500, dbSNP:rs587776577), which was absent in family members, indicating a de novo mutation. This variant has been reported elsewhere under alternate variant designations (e.g., 1432 + 4C > T or IVS9 + 4C > T). WT1: Wilms tumor suppressor gene