A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors.
J Endocrinol Invest
; 27(6): 577-82, 2004 Jun.
Article
en En
| MEDLINE
| ID: mdl-15717658
ABSTRACT
Germline mutations of the MEN 1 gene are responsible for multiple endocrine neoplasia type 1 (MEN 1), a dominantly inherited cancer syndrome characterized by tumors of the parathyroids, gastro-intestinal endocrine tissue, anterior pituitary and other endocrine tissues. We report on a 55-yr old woman, presenting with active acromegaly (due to GH-secreting microadenoma), associated to bilateral adrenal adenomatosis and Hürthle-cell thyroid neoplasia. No evidence of hyperparathyroidism or gastrin-secreting tumor was found. Peripheral blood genomic DNA was extracted, amplified by PCR, purified and analyzed by direct sequencing. The analysis revealed a heterozygous mutation in exon 4 of the MEN 1 gene a G to A missense mutation at codon 229 (CGC-->CAC), which changes arginine to histidine. This mutation causes loss of the Hhal restriction site and can thus be employed for a rapid familiar screening. This case represents a newly recognized germline mutation of the MEN 1 gene.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Acromegalia
/
Proteínas Proto-Oncogénicas
/
Mutación de Línea Germinal
/
Neoplasia Endocrina Múltiple Tipo 1
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
J Endocrinol Invest
Año:
2004
Tipo del documento:
Article
País de afiliación:
Italia