Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism.

ABSTRACT:

Context

Germline gain-of-function variants in the transcription factor GCM2 were found in 18% of kindreds with familial isolated hyperparathyroidism (FIHP). These variants [c.1136T>A (p.Leu379Gln) and c.1181A>C (p.Tyr394Ser)] were located in a 17-amino acid transcriptional inhibitory domain named C-terminal conserved inhibitory domain (CCID).

Objective

We investigated the ethnicity of individuals with germline variants in the GCM2 CCID in our primary hyperparathyroidism (PHPT) patient samples and in the Genome Aggregation Database.

Design

Ethnicity information was obtained from an in-house clinical database and genetic counseling. Sanger sequencing of blood DNA was used to determine the genotype of the GCM2 CCID region. Luciferase reporter assays were pe

SUBMITTER: Guan B 

PROVIDER: S-EPMC5686704 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature