Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.

ABSTRACT:

Purpose

CDKN1B mutations were established as a cause of multiple endocrine neoplasia 4 (MEN4) syndrome in patients with MEN1 phenotype without a mutation in the MEN1 gene. In addition, variants in other cyclin-dependent kinase inhibitors (CDKIs) were found in some MEN1-like cases without the MEN1 mutation. We aimed to describe novel germline mutations of these genes in patients with primary hyperparathyroidism (PHPT).

Methods

During genetic screening for familial hyperparathyroidism, three novel CDKIs germline mutations in three unrelated cases between January 2019 and November 2021 were identified. In this report, we describe clinical features, DNA sequence analysis, and familial segregation studies based on these patients and their relatives. Genome-wide DNA study of loss

SUBMITTER: Mazarico-Altisent I 

PROVIDER: S-EPMC10023768 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature