Brief Report: AIP Mutation in Pituitary Adenomas in the 18th Century and Today.

被引：91

作者：

Chahal, Harvinder S. ^{[1
]}

Stals, Karen ^{[6
]}

Unterlander, Martina ^{[13
]}

Balding, David J. ^{[2
]}

Thomas, Mark G. ^{[3
,14
]}

Kumar, Ajith V. ^{[4
]}

Besser, G. Michael ^{[1
]}

Atkinson, A. Brew ^{[8
]}

Morrison, Patrick J. ^{[9
,10
]}

Howlett, Trevor A. ^{[11
]}

Levy, Miles J. ^{[11
]}

Orme, Steve M. ^{[12
]}

Akker, Scott A. ^{[1
]}

Abel, Richard L. ^{[5
]}

Grossman, Ashley B. ^{[1
]}

Burger, Joachim ^{[13
]}

Ellard, Sian ^{[6
,7
]}

Korbonits, Marta ^{[1
]}

机构：

[1] Queen Mary Univ London, Barts & London Sch Med, Dept Endocrinol, London EC1A 6BQ, England

[2] UCL, Inst Genet, London, England

[3] UCL, Res Dept Genet Evolut & Environm, London, England

[4] Great Ormond St Hosp Sick Children, NE Thames Reg Genet Serv, London, England

[5] Nat Hist Museum, Dept Mineral, London SW7 5BD, England

[6] Royal Devon & Exeter Fdn Trust, Dept Mol Genet, Exeter, Devon, England

[7] Univ Exeter, Peninsula Med Sch, Exeter, Devon, England

[8] Royal Victoria Hosp, Reg Ctr Endocrinol & Diabet, Belfast BT12 6BA, Antrim, North Ireland

[9] Belfast HSC Trust, Dept Med Genet, Belfast, Antrim, North Ireland

[10] Univ Ulster, Sch Biomed Sci, Coleraine BT52 1SA, Londonderry, North Ireland

[11] Univ Hosp Leicester, Dept Endocrinol, Leicester, Leics, England

[12] St James Univ Hosp, Dept Endocrinol, Leeds, W Yorkshire, England

[13] Johannes Gutenberg Univ Mainz, Inst Anthropol, Mainz, Germany

[14] Uppsala Univ, Evolutionary Biol Ctr, Dept Evolutionary Biol, Uppsala, Sweden

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2011年 / 364卷 / 01期

基金：

英国医学研究理事会;

关键词：

INTERACTING-PROTEIN GENE; YOUNG-PATIENTS; LARGE COHORT; IRISH GIANT; ADOLESCENTS; FAMILIES; CHILDREN; COMPLEX;

D O I：

10.1056/NEJMoa1008020

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：43 / 50

页数：8

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