Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review

Zhou, Haiyang; Liang, Xinhuan; Qing, Yingfen; Meng, Bihui; Zhou, Jia; Huang, Song; Lu, Shurong; Huang, Zhenxing; Yang, Haiyan; Ma, Yan; Luo, Zuojie

doi:10.1186/s12902-018-0298-3

Table 5 Pathology and gene information for the reported cases to date

From: Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review

No	Sex	Age	Thyroid disease	Diagnosis method	Pathology	Mutation type	Variation site	Change in nucleotide base	Change in amino acid
1	Male	45	GD	Gene analysis	No mention	Homozygote	Exon 12	1562-1564delTCA	522delIle
2 [7]	Male	39	GD	Gene analysis	No mention	Compound heterozygote	Exon 15	1841C-T	Ser614Phe
2 [7]	Male	39	GD	Gene analysis	No mention	Compound heterozygote	Exon 26	2968G-A	Arg990Lys
3 [7]	Female	41	Antibody-positive	Gene analysis	No mention	Compound heterozygote	Intron 7	964 + 2 T-C
3 [7]	Female	41	Antibody-positive	Gene analysis	No mention	Compound heterozygote	Exon 1	179C-T	Thr60Met
4 [8]	Female	40	Antibody-positive	Gene analysis	No mention	Compound heterozygote	Exon 22	2552 T-A	Leu849His
4 [8]	Female	40	Antibody-positive	Gene analysis	No mention	Compound heterozygote	Exon 22	2561G-A	Arg852His
5 [8]	Female	28	GD	Gene analysis	No mention	Homozygote	Exon 22	2552 T-A	Leu849His
6 [9]	Male	20	HT	Pathology and Gene analysis	JGC hyperplasia	Wild-type	–	–	–
7 [9]	Female	46	GD	Gene analysis	No mention	Heterozygote	Exon 1	185C-T	Thr60Met
8 [9]	Male	21	GD	Gene analysis	No mention	Homozygote	Exon 23	2744G-A	Arg913Gln
9 [10]	Female	18	GD	Gene analysis	No mention	Compound heterozygote	Exon 12	1015A-C	Thr339Pro
9 [10]	Female	18	GD	Gene analysis	No mention	Compound heterozygote	Exon 22	2573 T-A	Leu858His
10 [10]	Female	50	GD	Gene analysis	No mention	Compound heterozygote	Exon 4	539C-A	Thr180Lys
10 [10]	Female	50	GD	Gene analysis	No mention	Compound heterozygote	Exon 8	1045C-T	Pro349Ser
11 [10]	Female	56	GD	Gene analysis	No mention	Homozygote	Exon 14	1706C-T	Ala569Val
12 [11]	Female	14	GD	Gene analysis	No mention	No mention	Exon 6	791G-C	Gly264Ala
13 [12]	Female	20	GD	Pathology	JGA hyperplasia	–	–	–	–
14 [13, 14]	Male	21	GD	Pathology	JGA hyperplasia		–	–	–
15 [14]	Male	18	GD	Pathology	JGA hyperplasia			–	–
16 [15]	Female	39	HT	Biochemical analysis	–			–	–
17 [16]	Male	22	GD	Pathology	JGC hyperplasia
18 [17]	Female	29	HT	Pathology	JGC hyperplasia

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ISSN: 1472-6823

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