Novel 1113delC menin gene mutation in a Polish family with multiple endocrine neoplasia type 1 syndrome

Abstract

We report the case of a 32-year-old male with hypercalcemia and recurrent nephrolithiasis as a symptom of primary hyperparathyroidism, hypoglycemia due to insulinoma, microprolactinoma, and a large, partially calcified tumor of the upper right leg. The patient underwent several surgical interventions including subtotal parathyreoidectomy, partial pancreatectomy, and percutaneous nephrolithotrypsy. Regular treatment with bromocriptine was required for normalization of serum prolactin concentration. His only sibling, a 26-year-old sister, suffered from microprolactinoma and had been treated with bromocriptine for 6 years. Their father had suffered from recurrent kidney stones and peptic ulcer and died at the age of 34. A novel 1113delC mutation within exon 7 of the menin gene was found in both siblings. This mutation results in a frame-shift with missense translation of the subsequent residual acids and preterm termination of the peptide at codon 357.