Fig. 3

A, B Validation of GGC repeat expansions in the NOTCH2NLC gene by GC-PCR (A) and RP-PCR (B). C, D Sanger sequencing of the patient. Two heterozygous mutations, c.316G > T (p.D106Y) and c.2398C > T (p.R800C), in the NPHS1 gene were recognized by genetic testing. The mutation c.316G > T was identified within exon 3 of NPHS1 (C). The mutation c.2398C > T was identified within exon 18 of NPHS1 (D)