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

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    URI
    http://hdl.handle.net/11287/605114
    Author
    Ramírez-Rentería, C.
    Hernández-Ramírez, L. C.
    Portocarrero-Ortiz, L.
    Vargas, G.
    Melgar, V.
    Espinosa, E.
    Espinosa-de-Los-Monteros, A. L.
    Sosa, E.
    González, B.
    Zúñiga, S.
    Unterländer, M.
    Burger, J.
    Stals, K.
    Bussell, A-M.
    Ellard, Sian
    Dang, M.
    Iacovazzo, D.
    Kapur, S.
    Gabrovska, P.
    Radian, S.
    Roncaroli, F.
    Korbonits, M.
    Mercado, M.
    Date
    2016-03-31
    Journal
    Endocrine
    Type
    Journal Article
    Publisher
    Springer
    DOI
    10.1007/s12020-016-0930-9
    Rights
    Archived with thanks to Endocrine.
    Metadata
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    Abstract
    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.
    Citation
    AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. 2016 Aug;53(2):402-11 Endocrine
    Publisher URL
    http://dx.doi.org/10.1007/s12020-016-0930-9
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    • 2016 RD&E publications
    • Molecular Genetics

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