Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

Table 1 Mutations identified in KCNQ1

Gene	cDNA	Protein	Mutation type	Genomic region	Protein region	Phenotype	References
*KCNQ1*	NM_000218	NP_000209
	c.217C > A	p.P73T	Missense	Exon_01	N-term	RWS	[4, 16]
DK	c.470T > G	p.F157C	Missense	Exon_02	S2	RWS	[17]
	c.572-576del	p.L191fs	Frameshift	Exon_03	S2-S3	RWS	[4, 18]
	c.592A > G	p.I198V	Missense	Exon_03	S2-S3	RWS	[4]
	c.674C > T	p.S225L	Missense	Exon_04	S3-S4	RWS	[4, 19]
	c.667C > T	p.A226V	Missense	Exon_04	S3-S4	RWS	[4, 20]
	c.760G > A*	p.V254M	Missense	Exon_05	S4-S5	RWS	[4, 20–26]
	c.817C > T*	p.L273F	Missense	Exon_06	S5	RWS	[4, 20, 21, 25–28]
	c.905C > T	p.A302V	Missense	Exon_06	Pore	RWS	[4, 22]
	c.944A > G*	p.Y315C	Missense	Exon_07	Pore	RWS	[4, 19, 20, 22, 29–31]
	c.1015-1017del	p.F339del	Deletion	Exon_07	S6	RWS	[32]
DK	IVS6_IVS10del	Unknown	Deletion	Exon_07-Exon_9	Unknown	RWS	This study
	c.1017-1019del	p.F340del	Deletion	Exon_07	S6	RWS	[4, 20, 25, 33]
	c.1032G > A	p.A344sp	Splice-site	IVS_07	C-term	RWS	[4, 22, 25, 26, 34–37]
	c.1048G > A	p.G350R	Missense	Exon_08	C-term	RWS	[4, 38]
DK	c.1087C > A	p.H363N	Missense	Exon_08	C-term	RWS	[2, 26]
	c.1096C > T	p.R366W	Missense	Exon_08	C-term	RWS	[4, 9, 22, 26, 31]
	c.1202insC	p.P400fs	Frameshift	Exon_09	C-term	RWS	[4, 20, 39]
	c.1588C > T*	p.Q530X	Nonsense	Exon_12	C-term	RWS	[4, 20, 25, 28, 40, 41]
	c.1747C > T*	p.R583C	Missense	Exon_15	C-term	RWS	[25, 42]
DK	c.1747C > G	p.R583G	Missense	Exon_15	C-term	RWS	This study
	c.1748G > A	p.R583H	Missense	Exon_15	C-term	RWS	[38]

DK: Only seen in patients of Danish origin. *in vitro functional characterisation performed. RWS: Romano-Ward syndrome.

ISSN: 1471-2350