title: A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.
abstract: Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote. It was noted that in this pedigree, only the proband complained about recurrent episodes of bilateral lower limb weakness over 8 years, while his elder sister, mother and daughter did not present symptoms. The inconsistent clinical features of this pedigree implied that besides diverse phenotypes possibly originated from the same genotype, gender difference may also dominate the variant GS phenotypes. Further genetic and proteomic research are needed to investigate the precise mechanisms of GS, including the study of specific ethnicities.
authors: Division of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors: Y
authors: Y
authors: Zhang
authors: Division of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors: F
authors: F
authors: Zhang
authors: Division of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors: D
authors: D
authors: Chen
authors: Division of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors: Q
authors: Q
authors: Lü
authors: Division of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors: L
authors: L
authors: Tang
authors: School of Clinical Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, China.
authors: C
authors: C
authors: Yang
authors: School of Clinical Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors: M
authors: M
authors: Lei
authors: Division of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors: N
authors: N
authors: Tong
mesh_terms: D044466:Asian People; D005260:Female; D053579:Gitelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D064486:Solute Carrier Family 12, Member 3 / Q000235:genetics*; D055815:Young Adult
chemical_list: D064486:Solute Carrier Family 12, Member 3