Brief Report: AIP Mutation in Pituitary Adenomas in the 18th Century and Today
Chahal, HS; Stals, K; Unterlander, M; et al.Balding, DJ; Thomas, MG; Kumar, AV; Besser, GM; Atkinson, AB; Morrison, PJ; Howlett, TA; Levy, MJ; Orme, SM; Akker, SA; Abel, RL; Grossman, AB; Burger, J; Ellard, Sian; Korbonits, M
Date: 6 January 2011
Article
Journal
New England Journal of Medicine
Publisher
Massachusetts Medical Society
Publisher DOI
Related links
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 ...
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.
Institute of Biomedical & Clinical Science
Collections of Former Colleges
Item views 0
Full item downloads 0