Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.

ABSTRACT:

Objective

The aim of this study was to analyze variants of the gene glial cells missing-2 (GCM2), encoding a parathyroid cell-specific transcription factor, in familial hypoparathyroidism and in familial isolated hyperparathyroidism (FIHP) without and with parathyroid carcinoma.

Design

We characterized 2 families with hypoparathyroidism and 19 with FIHP in which we examined the mechanism of action of GCM2 variants.

Methods

Leukocyte DNA of hypoparathyroid individuals was Sanger sequenced for CASR, PTH, GNA11 and GCM2 mutations. DNA of hyperparathyroid individuals underwent MEN1, CDKN1B, CDC73, CASR, RET and GCM2 sequencing. The actions of identified GCM2 variants were evaluated by in vitro functional analyses.

Results

A novel homozygous p.R67C GCM2 mutation whi

SUBMITTER: Canaff L 

PROVIDER: S-EPMC8859918 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature