7 research outputs found
The Growth Hormone Receptor (GHR) Polymorphism in Growth-retarded Children with Cushing Disease: Lack of Association with Growth and Measures of the Somatotropic Axis
No full textAn Intronic Mutation is Associated with Prolactinoma in a Young Boy, Decreased Penetrance in his Large Family, and Variable Effects on MEN1 mRNA
No full textGermline AIP, MEN1, PRKAR1A, CDKN1B (p27Kip1) and CDKN2C (p18INK4c) gene mutations in a large cohort of pediatric patients with pituitary adenomas occurring in isolation or with associated syndromic features
Full text linkA new double substitution mutation in the MEN1 gene : a limited penetrance and a specific phenotype
No full textMultiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant cancer syndrome that is caused by a germline mutation in the MEN1 gene encoding a tumour-suppressor protein, menin. MEN1 causes a combination of endocrine tumours such as parathyroid adenomas, pituitary adenomas, glucagonomas, gastrinomas, insulinomas, adrenocortical adenomas and non-endocrine tumours. We here present a large MEN1 family where the carriers developed mild hyperparathyroidism, multiple well-differentiated functionally active neuroendocrine tumours of the pancreas and no pituitary tumour. The causal mutation is a new double substitution in the coding region of exon 2 in the MEN1 gene c.[428T>A; 429C>T], p.Leu143His. This new mutation in the MEN1 gene is clinically relevant leading to a limited penetrance and specific phenotype
