Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation.

ABSTRACT:

Background

MEN1 mutations can inactivate or disrupt menin function and are leading to multiple endocrine neoplasia type 1, a rare heritable tumor syndrome.

Case presentation

We report on a MEN1 family with a novel heterozygous germline mutation, c.674delG; p.Gly225Aspfs*56 in exon 4 of the MEN1 gene. Diagnosis and clinical phenotyping of MEN1 was established by laboratory tests, ultrasound, biopsy, MRI imaging and endosonography. The clinical course of the disease was followed in the index patient and her family members for eight years. The mutation was associated with distinct clinical phenotypes in the index patient and three family members harboring p.Gly225Aspfs*56. Family members affected showed primary hyperparathyroidism but variable patterns of associated endocrine t

SUBMITTER: Welsch C 

PROVIDER: S-EPMC8919629 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature