Brief Report: AIP Mutation in Pituitary Adenomas in the 18th Century and Today
2011 (English)In: New England Journal of Medicine, ISSN 0028-4793, Vol. 364, no 1, 43-50 p.Article in journal (Refereed) Published
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, *RF 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.
Place, publisher, year, edition, pages
2011. Vol. 364, no 1, 43-50 p.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-144499DOI: 10.1056/NEJMoa1008020ISI: 000285922600009PubMedID: 21208107OAI: oai:DiVA.org:uu-144499DiVA: diva2:393747