Work

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

Year: 2026

Type: article

Abstract: ABSTRACT Context Placental calcium (Ca 2+ ) transport is essential for foetal bone mineralisation and development, as well as for Ca 2+ homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal‐foetal Ca 2+ transport through the placenta. Although there is a limited number of cases, phenotype analyses of these patients show skeletal deformities and hyperparathyroidism. In this study, we identified a case with a homozygous mutation in the TRPV6 channel that leads to the deletion of the Ca 2+ pore. Patient measurements The neonate was born with skeletal abnormalities, increased umbilical cord PTH levels (75 pmol/L) and normal total Ca 2+ level (2.06 mmol/L). Skeletal abnormalities improved during the first months of life. Results 45 Ca 2+ uptake assays demonstrated loss‐of‐function, and biotinylation assays demonstrated failure of the channel to reach the cell surface. Conclusions These findings indicate that the TRPV6‐p.Arg492* mutation affects maternal‐foetal Ca 2+ transport and explains the observed phenotype.

Source: Clinical Endocrinology

DOI: 10.1111/cen.70134