Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

Table 1 Definitive pathogenic mutations in PKD1 and PKD2 found in this study

Gene	Exon/Intron	cDNA change	Amino acid change	Known/Novel	Type	Family history	Reference
PKD1	12	c.2865delC	p.Val956Trpfs*20	Known	Frameshift	+	PKDB [3]
PKD1	12	c.2932C > T	p.Gln978*	Novel	Nonsense	+
PKD1	15	c.4379_4380delTG	p.Val1460Glyfs*62	Novel	Frameshift	+
PKD1	19	c.7579_7580delGT	p.Val2527Leufs*67	Novel	Frameshift	+
PKD1	22	c.8019dupG	p.Pro2674Alafs*148	Novel	Frameshift	+
PKD1	26	c.9340C > T	p.Gln3114*	Novel	Nonsense	+
PKD1	42	c.11545delG	p.Ala3849Leu*96	Novel	Frameshift	+
PKD1	42	c.11614G > T	p.Glu3872*	Known	Nonsense	+	PKDB [21]
PKD1	43	c.11766G > A	p.Trp3922*	Known	Nonsense	+	PKDB [1]
PKD1	45	c.12155_12156delTG	p.Val4052Glyfs*104	Known	Frameshift	+	PKDB (unpublished)^a
PKD2	2	c.667G > T	p.Glu223*	Novel	Nonsense	+
PKD2	8	c.1888_1891delinsGT	p.Gln630Valfs*20	Novel	Frameshift	+
PKD2	13	c.2407C > T	p.Arg803*	Known	Nonsense	+	PKDB [3]

^aThis mutation has been reported in one family (ATH0279) from unpublished data and is registered in PKDB by Athena Diagnostics.

ISSN: 1471-2350