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

Table 1

NPHS1 mutations detected in the Vietnamese patients with CNS.

Patient	Exon	Nucleotide exchange	Effect on coding sequence	Mutation status	Segregation	Reference
1	3	c. 349G>A	p.Glu117Lys	het	p	[15]
	8	c. 928G>A	p.Asp310Asn	het	p	[20]
	24	c.3250_3251insG	p.Val1084Glyfs12	het	m	[1]
2	3	c. 349G>A	p.Glu117Lys	het	pm	[15]
	8	c. 970T>G	p.Ser324Ala	het	“De novo”	Present study
3	3	c. 349G>A	p.Glu117Lys	homo	p, m	[15]
	18	c. 2374A>T	p.Lys792	het	“De novo”	Present study
	18	c. 2405G>T	p.Arg802Leu	het	“De novo”	Present study

(het: heterozygous; homo: homozygous; p: paternal; m: maternal).