Loss-of-function Thr347Ala Variant in the G Protein Subunit-Α11 Causes Familial Hypocalciuric Hypercalcemia 2
Authors' conclusion
This identification of a novel GNA11 variant causing FHH2 substantiates the important role of Gα11 for CaSR signaling and Ca2+ homeostasis.
Study context
- Population
- Index patient and family with heterozygous GNA11 Thr347Ala variant (FHH2)one family
- Comparison
- Gα11-Thr347Ala vs Gα11 wild type
- Outcome
- Calcium agonist potency at CaSR (IP1 accumulation assay)
Methodological detailscase-family genetic study, in vitro IP1 accumulation assay
- Case-family genetic study
- In vitro IP1 accumulation assay
Main finding
As reported in the abstract
Further findings
Clinical phenotype of heterozygous carriers
- Mild asymptomatic hypercalcemia, hypocalciuria and inappropriately high normal PTH given elevated serum calcium
Original publication
Loss-of-function Thr347Ala Variant in the G Protein Subunit-Α11 Causes Familial Hypocalciuric Hypercalcemia 2. J Clin Endocrinol Metab. Published 26 June 2024. doi:10.
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