期刊
PITUITARY
卷 16, 期 2, 页码 238-244出版社
SPRINGER
DOI: 10.1007/s11102-012-0409-5
关键词
AIP; FIPA; Genetic screening; Penetrance
资金
- Italian Ministry of University and Research [FIRB RBAP11884 M, RBAP1153LS]
- Fondazione Cassa di Risparmio di Ferrara
- Associazione Italiana per la Ricerca sul Cancro (AIRC)
- Laboratorio in rete del Tecnopolo Tecnologie delle terapie avanzate (LTTA) of the University of Ferrara
- Carrozza-San Leonardo Pollicino Foundation, Messina
Germline mutations of aryl-hydrocarbon-receptor interacting protein (AIP) are associated with pituitary adenoma predisposition. They occur in 20 % of familial isolated pituitary adenoma (FIPA) and in about 3-5 % of sporadic pituitary adenomas, especially in early onset somatotropinomas and prolactinomas. Our aim was to evaluate the clinical and genetic features of a large Italian FIPA family, where an AIP variant was identified. AIP direct sequencing from genomic DNA was carried out in 16 available family members. AIP R16H carriers also underwent magnetic resonance imaging and hormonal assessments. AIP mutations were also searched in 16 patients with sporadic growth hormone-secreting pituitary adenoma and in 6 unrelated patients in whom pituitary adenoma was excluded. We found an AIP R16H variation in two family members harbouring a pituitary adenoma and in 6 unaffected family members. No AIP mutation was found neither in growth hormone-secreting pituitary adenoma patients, nor in the unrelated patients without pituitary adenoma. We report a FIPA family harbouring an AIP R16H change, supporting the hypothesis that the latter represents a variant of unknown significance.
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