Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension

Table 1

A summary of novel genetic mutation associated with monogenic hypertension.

Diseases	Detection methods	Genes	Variants	Effects	Authors
AME	Next-generation sequencing, Sanger sequencing	HSD11B2	c.343_348del; c.1099_1101del	Glu115 and Leu116 deletion; Phe367 deletion	[26]
AME	Sanger sequencing	HSD11B2	c.900 dup	Glu301Argfs56	[28]
AME	Sanger sequencing	HSD11B2	c.799A > G	p.T267A substitution; misalignment of NAD in the coenzyme-binding site	[27]
AME	Pyrosequencing	HSD11B2	c.C662G	p.A221G substitution	[29]
AME	Sanger sequencing	HSD11B2	c.G526A	p.D176N substitution	[30]
LS	Next-generation sequencing, Sanger sequencing	SCNN1B	c.C1988A	p.Tyr604 substitution	[38]
LS	Sanger sequencing	SCNN1G	p.Arg586Valfs598	PY motif deletion	[39]
LS	Sanger sequencing	SCNN1B	c.1721delC	p.Pro574HisfsX675	[40]
GS	Sanger sequencing	WNK4	c.G1690A	p.D564N substitution	[53]
GS	Next-generation sequencing	KLHL3	c.1492C > T	p.His498Tyr substitution	[54]

The asterisk () symbol represents a translation termination (stop) codon.