Transient neonatal hyperparathyroidism caused by a monoallelic <i>TRPV6</i> dominant negative variant.

ABSTRACT: Transient neonatal hyperparathyroidism (TNHP) is a rare disorder characterized by severe skeletal abnormalities in newborns, resulting from insufficient maternal-fetal calcium transport across the placenta. Transient receptor potential cation channel, subfamily V, member 6 (TRPV6) plays a significant role in placental calcium transport. While biallelic variants in the TRPV6 gene have been associated with TNHP, we present a case involving a neonate of Malay descent, born to non-consanguineous parents, who exhibited severe skeletal abnormalities at birth that resolved spontaneously within 6 wk. Biochemical evaluation revealed neonatal hyperparathyroidism alongside maternal vitamin D deficiency. Whole exome sequencing identified a novel paternally inherited heterozygous missense varian

SUBMITTER: Lam Shang Leen J 

PROVIDER: S-EPMC12790278 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature