Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome
Authors' conclusion
We identified two novel SLC12A3 genetic variant [c.2159G>T (p.Gly720Val) and c.2675T>C (p.Leu892Pro)] in two Chinese GS pedigrees. The discovery of new mutations has enriched the spectrum of SLC12A3 genotypes.
Study context
- Population
- Two Chinese pedigrees with Gitelman syndrome (GS): 2 suspected GS patients (middle-aged women) and 11 family members2 patients · 11 members
- Outcome
- SLC12A3 mutations
Methodological detailstwo pedigrees, Sanger direct sequencing, in silico pathogenicity prediction (Polyphen-2, SIFT, Mutation Taster, LRT)
- Two pedigrees
- Sanger direct sequencing
- In silico pathogenicity prediction (Polyphen-2, SIFT, Mutation Taster, LRT)
Main finding
As reported in the abstract
Mutations identified in the two pedigrees
3
Known mutation
c.179C>T
Thr60Met
Novel mutations strongly predicted pathogenic by four programs
c.2159G>T (p. Gly720Val) and c.2675T>C (p. Leu892Pro)
Observational data: associations, not effects.
Further findings
Clinical characteristics
- Both patients: hypokalemic metabolic alkalosis, hypomagnesemia, low urinary calcium, elevated renin-angiotensin-aldosterone system; clinically diagnosed as GS
- Patient 2 also had T2D and Graves' disease
Original publication
Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome. Clin Endocrinol (Oxf). Published 28 December 2022. doi:10.
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