Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics
Authors' conclusion
We report on a novel CASR mutation in a three-generation kindred. Comprehensive clinical data enabled us to suggest age-specific upper limit of serum calcium levels, considering the association between serum calcium and renal calcium excretion.
Study context
- Population
- Family with ADH1 due to a novel heterozygous CASR mutation, seven members over three generations
- Participants
- 7 family members
- Comparison
- Mutant p.Ile139Thr CASR vs wild-type CASR
- Outcome
- Sensitivity of CASR to activation by extracellular calcium (EC50)
Methodological detailsthree-generation kindred, HEK293T cell transfection
- Three-generation kindred
- HEK293T cell transfection
Main finding
As reported in the abstract
P < 0.005
Further findings
Clinical characteristics
Patients
- Seizures
- 2
- Nephrocalcinosis and nephrolithiasis
- 3
- Early lens opacity
- 2
Serum calcium vs urinary calcium-to-creatinine ratio · over 49 patient-years
- Highly correlated in 3 of the patients; age-adjusted serum calcium levels derived to reduce seizures and hypercalciuria
Original publication
Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics. Horm Res Paediatr. Published 22 February 2023. doi:10.
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