AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience: the Mexican experience

Claudia Ramírez-Rentería, Laura C Hernández-Ramírez, Lesly Portocarrero-Ortiz, Guadalupe Vargas, Virgilio Melgar, Etual Espinosa, Ana Laura Espinosa-de-Los-Monteros, Ernesto Sosa, Baldomero González, Sergio Zúñiga, Martina Unterländer, Joachim Burger, Karen Stals, Anne-Marie Bussell, Sian Ellard, Mary Dang, Donato Iacovazzo, Sonal Kapur, Plamena Gabrovska, Serban RadianFederico Roncaroli, Márta Korbonits, Moisés Mercado

Research output: Contribution to journalArticlepeer-review


Although aryl hydrocarbon receptor-interacting protein (AIP) mutations are rare in sporadic acromegaly, their prevalence among young patients is nonnegligible. The objectives of this study were to evaluate the frequency of AIP mutations in a cohort of Mexican patients with acromegaly with disease onset before the age of 30 and to search for molecular abnormalities in the AIP gene in teeth obtained from the “Tampico Giant”. Peripheral blood DNA from 71 patients with acromegaly (51 females) with disease onset <30 years was analysed (median age of disease onset of 23 years) and correlated with clinical, biochemical and imaging characteristics. Sequencing was also carried out in DNA extracted from teeth of the Tampico Giant. Five patients (7 %) harboured heterozygous, germline mutations of the AIP gene. In two of them (a 9-year-old girl with gigantism and a young man with symptoms of GH excess since age 14) the c.910C>T (p.Arg304Ter), well-known truncating mutation was identified; in one of these two cases and her identical twin sister, the mutation proved to be a de novo event, since neither of their parents were found to be carriers. In the remaining three patients, new mutations were identified: a frameshift mutation (c.976_977insC, p.Gly326AfsTer), an in-frame deletion (c.872_877del, p.Val291_Leu292del) and a nonsense mutation (c.868A > T, p.Lys290Ter), which are predicted to be pathogenic based on in silico analysis. Patients with AIP mutations tended to have an earlier onset of acromegaly and harboured larger and more invasive tumours. A previously described genetic variant of unknown significance (c.869C > T, p.Ala299Val) was identified in DNA from the Tampico Giant. The prevalence of AIP mutations in young Mexican patients with acromegaly is similar to that of European cohorts. Our results support the need for genetic evaluation of patients with early onset acromegaly.
Original languageEnglish
Pages (from-to)402-11
Number of pages10
Issue number2
Publication statusPublished - 31 Mar 2016


  • Acromegaly
  • Adenoma
  • Adolescent
  • Adult
  • Female
  • Gene Frequency
  • Gigantism
  • Growth Hormone-Secreting Pituitary Adenoma
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Mexico
  • Mutation
  • Young Adult
  • Journal Article


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