Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2011
A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1.
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Hou Runhua, Manwaring Linda P, Moley Jeffrey F, Whelan Alison
Аннотация
OBJECTIVE: To describe a novel germline missense mutation in exon 2 of the MEN1 gene identified in a man with multiple endocrine neoplasia type 1 (MEN 1).
METHODS: We describe the patient's clinical, laboratory, and genetic data, and we review the relevant literature.
RESULTS: A 41-year-old man with a history of primary hyperparathyroidism and left lower parathyroidectomy presented with nausea, vomiting, and hematemesis. Laboratory data revealed an elevated gastrin level. Computed tomography of the abdomen demonstrated a 3.5-cm mass in the head of pancreas. A functional study with a somatostatin receptor scan showed increased uptake in the region of the pancreatic mass. The patient's symptoms promptly improved after the Whipple procedure, although he was also noted to have a markedly elevated calcium concentration along with inappropriately elevated parathyroid hormone levels. Sestamibi scan identified a hyperfunctioning right upper parathyroid gland. His calcium level normalized after parathyroidectomy, and results from pituitary hormone studies were all normal. Genetic testing of the MEN1 gene identified a novel mutation: Arg52Gly. The Arg52Gly mutation replaces the normal arginine residue (CGC) with a glycine residue (GGC) at position 52 of the resultant menin protein. This mutation was present in family members from 3 generations.
CONCLUSIONS: We report a novel disease-causing germline missense mutation in exon 2 of the MEN1 gene in a patient with MEN 1. Nonconservative replacement of arginine, a small, neutral amino acid, with glycine, a bulky positively charged amino acid, could potentially have a deleterious effect on the menin protein.
METHODS: We describe the patient's clinical, laboratory, and genetic data, and we review the relevant literature.
RESULTS: A 41-year-old man with a history of primary hyperparathyroidism and left lower parathyroidectomy presented with nausea, vomiting, and hematemesis. Laboratory data revealed an elevated gastrin level. Computed tomography of the abdomen demonstrated a 3.5-cm mass in the head of pancreas. A functional study with a somatostatin receptor scan showed increased uptake in the region of the pancreatic mass. The patient's symptoms promptly improved after the Whipple procedure, although he was also noted to have a markedly elevated calcium concentration along with inappropriately elevated parathyroid hormone levels. Sestamibi scan identified a hyperfunctioning right upper parathyroid gland. His calcium level normalized after parathyroidectomy, and results from pituitary hormone studies were all normal. Genetic testing of the MEN1 gene identified a novel mutation: Arg52Gly. The Arg52Gly mutation replaces the normal arginine residue (CGC) with a glycine residue (GGC) at position 52 of the resultant menin protein. This mutation was present in family members from 3 generations.
CONCLUSIONS: We report a novel disease-causing germline missense mutation in exon 2 of the MEN1 gene in a patient with MEN 1. Nonconservative replacement of arginine, a small, neutral amino acid, with glycine, a bulky positively charged amino acid, could potentially have a deleterious effect on the menin protein.