What question did this study set out to answer?

This research aims to explore the effects of a TRPV6 gene mutation on calcium transport between mother and fetus.

March 28, 2026Open Access

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion

This research aims to explore the effects of a TRPV6 gene mutation on calcium transport between mother and fetus.
Investigation of a novel homozygous TRPV6 deletion
Analysis of maternal-fetal calcium transport mechanisms
Assessment of osteopenia characteristics in affected fetus
Identified a significant impact on maternal-fetal calcium transport due to the TRPV6 mutation
Observed severe intrauterine osteopenia in the fetus
Confirmed a link between TRPV6 deletion and transient hyperparathyroidism

These findings indicate that the TRPV6-p.Arg492* mutation affects maternal-foetal Ca2+ transport and explains the observed phenotype.

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