A Novel Germline c.1267T>A MEN1 Mutation in MEN1 Family-from Phenotype to Gene and Back.

ABSTRACT: Primary hyperparathyroidism is a relatively common endocrine disorder, which may be hereditary. This report describes clinical, biochemical, radiographic, and genetic findings, the latter obtained using next generation sequencing (NGS), in three consanguineous patients. Gene panels in NGS consisted of 5 or 70 genes, including MEN1 and RET. The first patient suffered from recurrent primary hyperparathyroidism. Primary hyperparathyroidism and pituitary microadenomas were afterwards diagnosed in two of her daughters. No clinical nor radiological features of gastroenteropancreatic neuroendocrine tumors were found. All three family members were heterozygous for MEN1 NM_130799: c.1267T>A transversion, which is predicted to result in substitution of tryptophan with arginine i

SUBMITTER: Gierlikowski W 

PROVIDER: S-EPMC7700542 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature