Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review

Table 3 SLC12A3 pathogenic variants identified in Gitelman syndrome complicated with thyroid disease to date

Case no.	Sex	Age	Serum potassium (mmol/L)	Serum magnesium (mmol/L)	Thyroid disease	Mutation type	DNA nucleotide change	Amino acid change	Ref.
1	F	29	3.09	0.60	GD	Compound heterozygote	c.488C>T	p.Thr163Met	This study
							c.2612G>A	p.Arg871His	This study
							c.1171_1178dupGCCACCAT	p.Ile393fs	This study
2	F	40	3.30	0.74	HT	Compound heterozygote	c.2552T>A	p.Leu849His	[37]
							c.2561G>A	p.Arg852His
3	F	28	1.70	0.62	GD	Homozygote	c.2552T>A	p.Leu849His	[37]
4	F	18	3.20	0.86	GD	Compound heterozygote	c.1015A>C	p.Thr339Pro	[38]
							c.2573T>A	p.Leu858His
5	F	50	3.00	0.66	GD	Compound heterozygote	c.539C>A	p.Thr180Lys	[38]
							c.1045C>T	p.Pro349Ser
6	F	56	2.80	0.49	GD	Homozygote	c.1706C>T	p.Ala569Val	[38]
7	F	14	2.20	NA	GD	No mention	c.791G>C	p.Gly264Ala	[39]
8	M	16	2.27	0.40	GD	Compound heterozygote	c.1456G>A	p.Asp486Asn	[40]
							c.2102_2107delACAAGA	No mention
9	F	42	3.20	0.50	HT	Compound heterozygote	c.248G>A	p.Arg83Gln	[41]
							NC_000016.10:g.56872655_56872667	No mention
							(gcggacatttttg>accgaaaatttt)
10	M	2	1.57	NA	GD	Compound heterozygote	c.1077C>G	p.Asn359Lys	[42]
							c.1567G>A	p.Ala523Thr
11	M	45	2.11	0.54	GD	Homozygote	1562_1564delTCA	p.522delIle	[43]
12	M	21	2.10	NA	GD	Compound heterozygote	c.539C>A	p.Thr180Lys	[44]
							c.2573T>A	p.Leu858His
13	M	35	1.80	NA	GD	Homozygote	c.1145C>T	p.Thr382Met	[45]
14	F	30	2.52	0.48	HT	Compound heterozygote	c.486_490delinsA	p.Thr163fs	[46]
							c.506-1G>A
15	F	34	2.33	NA	HT	Compound heterozygote	c.953T>G	p.Phe318Cys	[47]
							c.1196G>A	p.Arg399His
							c.1664C>T	p.Ser555Leu
16	M	50	2.88	0.43	GD	Compound heterozygote	c.179C>T	p.Thr60Met	[48]
							c.1567G>A	p.Ala523Thr
17	F	46	2.30	0.43	GD	Heterozygote	c.185C>T	p.Thr60Met	[49]
18	M	21	2.64	0.36	GD	Homozygote	c.2744G>A	p.Arg913Gln	[49]
19	F	50	2.66	0.62	GD	Compound heterozygote	c.179C>T	p.Thr60Met	[50]
							c.863T>G	p.Leu288Arg
20	M	39	1.90	0.52	GD	Compound heterozygote	c.1841C>T	p.Ser614Phe	[51]
							c.2968G>A	p.Arg990Lys
21	F	41	2.60	0.40	AP	Compound heterozygote	c.964+2T>C		[51]
							c.179C>T	p.Thr60Met
22	F	20	NA	NA	SAT	Compound heterozygote	c.1456G>A	p.Asp486Asn	[52]
							c.506-1G>A
23	F	47	NA	NA	GD	Compound heterozygote	c.1016C>T	p.Thr339Ile	[52]
							c.1925G>A	p.Arg642His

GD: Graves’ disease; HT: Hashimoto’s thyroiditis; SAT: Subacute thyroiditis; AP: Antibody-positive; F: Female; M: Male; NA: Not available.