Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

Figure 2

Mutations of the NPHS1 gene were identified by sequencing in patient 2 and his parents. The pedigree and mutations of the NPHS1 gene were identified in the family of patient 2, including a heterozygous variant p.Glu117Lys and a “de novo” heterozygous mutation p.Ser324Ala.