A novel truncating AIP mutation, p.W279, in a familial isolated pituitary adenoma (FIPA) kindred

Familial isolated pituitary adenomas (FIPA) constitute 2-3% of pituitary tumours. AIP is the most commonly mutated gene in FIPA. We herein report a novel germline mutation of the AIP gene in a family with FIPA. We present two patients, a father and his 12-year-old daughter, diagnosed clinically and...

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Bibliographic Details
Published in:Hormones (Athens, Greece) Greece), 2016-07, Vol.15 (3), p.441-444
Main Authors: Cansu, Güven Barış, Taşkıran, Bengür, Trivellin, Giampaolo, Faucz, Fabio R, Stratakis, Constantine A
Format: Article
Language:English
Subjects:
Acromegaly - diagnosis
Acromegaly - genetics
Adenoma - blood
Adenoma - diagnosis
Adenoma - genetics
Adenoma - surgery
Adult
Biomarkers - blood
Child
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Gigantism - diagnosis
Gigantism - genetics
Growth Hormone-Secreting Pituitary Adenoma - blood
Growth Hormone-Secreting Pituitary Adenoma - diagnosis
Growth Hormone-Secreting Pituitary Adenoma - genetics
Growth Hormone-Secreting Pituitary Adenoma - surgery
Heterozygote
Human Growth Hormone - blood
Humans
Insulin-Like Growth Factor I - metabolism
Intracellular Signaling Peptides and Proteins - genetics
Male
Phenotype
Predictive Value of Tests
Risk Factors
Treatment Outcome
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Description
Summary:Familial isolated pituitary adenomas (FIPA) constitute 2-3% of pituitary tumours. AIP is the most commonly mutated gene in FIPA. We herein report a novel germline mutation of the AIP gene in a family with FIPA. We present two patients, a father and his 12-year-old daughter, diagnosed clinically and using laboratory measures with acromegaly-gigantism. Both underwent transsphenoidal hypophyseal surgery for macroadenomas. We initially detected a novel heterozygous germline AIP mutation, c.836G>A (p.W279*), in the father's DNA. We then found the same mutation in his affected daughter. Pituitary adenomas associated with AIP mutations mostly present as FIPA (68%) at an early age (78% occur at
ISSN:1109-3099
2520-8721
DOI:10.14310/horm.2002.1686