A Novel Germline Mutation of MEN1 Gene in a Young-aged Multiple Insulinoma with Hyperparathyroidism / 대한내분비외과학회지
Korean Journal of Endocrine Surgery
;
: 99-102, 2015.
Article
Dans Coréen
| WPRIM
| ID: wpr-195636
ABSTRACT
Multiple endocrine neoplasia type 1 is an autosomal dominant disease caused by the MEN1 germline mutation. A 25-year-old male was admitted for loss of consciousness. Initial laboratory data showed hypoglycemia and hypercalcemia. The image study showed two insulinoma in the pancreas head and body. MIBI scan was positive in the left lower parathyroid gland. After diagnosis of insulinoma and hyperparathyroidism, MEN1 was suspected, but there was no family history of endocrine disease. Enucleation of the insulinoma in the pancreatic head and body was performed. After the operation, the blood sugar level was normalized and no hypoglycemic symptoms were observed. Testing of germline mutations of the MEN1 gene was performed by direct DNA sequence analysis after obtaining informed consent. In the genetic study, a frameshift mutation was found in exon 2 which deleted 16 nucleic acids (c.326_341del16) and resulted in a truncation at codon 113. This mutation was not reported previously. We found a novel and de novo mutation of the MEN1 gene. Genetic study is necessary in case of young-age, multiple endocrine tumors.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pancréas
/
Glandes parathyroïdes
/
Perte de conscience
/
Glycémie
/
Codon
/
Acides nucléiques
/
Exons
/
Mutation avec décalage du cadre de lecture
/
Analyse de séquence d'ADN
/
Mutation germinale
Type d'étude:
Etude diagnostique
Limites du sujet:
Adulte
/
Humains
/
Mâle
langue:
Coréen
Texte intégral:
Korean Journal of Endocrine Surgery
Année:
2015
Type:
Article
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