UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

AIP mutation in pituitary adenomas in the 18th century and today

Chahal, HS; Stals, K; Unterländer, M; Balding, DJ; Thomas, MG; Kumar, AV; Besser, GM; ... Korbonits, M; + view all (2011) AIP mutation in pituitary adenomas in the 18th century and today. New England Journal of Medicine , 364 (1) pp. 43-50. 10.1056/NEJMoa1008020.

Full text not available from this repository.

Abstract

Gigantism results when a growth hormone-secreting pituitary adenoma is present before epiphyseal fusion. In 1909, when Harvey Cushing examined the skeleton of an Irish patient who lived from 1761 to 1783, 1-3 he noted an enlarged pituitary fossa. We extracted DNA from the patient's teeth and identified a germline mutation in the aryl hydrocarbon-interacting protein gene (AIP). Four contemporary Northern Irish families who presented with gigantism, acromegaly, or prolactinoma have the same mutation and haplotype associated with the mutated gene. Using coalescent theory, we infer that these persons share a common ancestor who lived about 57 to 66 generations earlier. Copyright © 2011 Massachusetts Medical Society.

Type: Article
Title: AIP mutation in pituitary adenomas in the 18th century and today
DOI: 10.1056/NEJMoa1008020
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment
URI: http://discovery.ucl.ac.uk/id/eprint/1546742
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item