Case Report

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

Figure 1

Mutations of the NPHS1 gene were identified by sequencing in patient 1 and his parents. The pedigree and mutations of the NPHS1 gene were identified in the family of patient 1, including a heterozygous variant p.Glu117Lys, a mutation p.Asp310Asn, and a heterozygous frameshift mutation p.Val1084Glyfs12.