Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.

ABSTRACT:

Context

Parathyroid hormone (PTH) gene mutations represent a rare cause of familial isolated hypoparathyroidism (FIH). These defects can cause hypoparathyroidism with increased or decreased serum levels of PTH through 1) impaired PTH synthesis; 2) induction of parathyroid cell apoptosis; or 3) secretion of bioinactive PTH molecules. Eight pathogenic mutations of this gene have been described previously.

Objective

Through describing 2 novel mutations of the PTH gene, we aim to extend the molecular basis for FIH and further refine the proposed mechanisms by which PTH mutations cause hypoparathyroidism.

Methods

Proband case reports were compiled with extended family analysis. The probands in both kindreds presented before age 10 days with hypocalcemia and elevated phosph

SUBMITTER: Hawkes CP 

PROVIDER: S-EPMC9113798 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature