Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study

Endocrine
Francesco FerraùS Cannavò

Abstract

This multicentric study aimed to investigate the prevalence of the G protein-coupled receptor 101 (GPR101) p.E308D variant and aryl hydrocarbon receptor interacting protein (AIP) gene mutations in a representative cohort of Italian patients with acromegaly. 215 patients with GH-secreting pituitary adenomas, referred to 4 Italian referral centres for pituitary diseases, have been included. Three cases of gigantism were present. Five cases were classified as FIPA. All the patients have been screened for germline AIP gene mutations and GPR101 gene p.E308D variant. Heterozygous AIP gene variants have been found in 7 patients (3.2 %). Five patients carried an AIP mutation (2.3 %; 4 females): 3 patients harboured the p.R3O4Q mutation, one had the p.R304* mutation and the last one the IVS3+1G>A mutation. The prevalence of AIP mutations was 3.3 % and 2.8 % when considering only the patients diagnosed when they were <30 or <40-year old, respectively. Furthermore, 2.0 % of the patients with a pituitary macroadenoma and 4.2 % of patients resistant to somatostatin analogues treatment were found to harbour an AIP gene mutation. None of the patients was found to carry the GPR101 p.E308D variant. The prevalence of AIP gene mutations among our...Continue Reading

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Citations

Jun 2, 2016·Acta Neuropathologica Communications·Donato IacovazzoMárta Korbonits
Dec 22, 2016·Molecular and Cellular Endocrinology·S CannavoF Ferraù
Oct 27, 2018·Nature Reviews. Endocrinology·Albert BeckersAdrian F Daly
Dec 12, 2018·The Journal of Endocrinology·Sara PepeDonato Iacovazzo
Mar 24, 2020·Endocrine Reviews·Vinaya Srirangam Nadhamuni, Márta Korbonits
Feb 6, 2017·Pituitary·Mônica R GadelhaMárta Korbonits
Mar 1, 2017·Expert Review of Endocrinology & Metabolism·D IacovazzoM Korbonits
Jan 11, 2020·Frontiers in Endocrinology·Medard F M van den BroekGerlof D Valk
Oct 16, 2016·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Francisca Caimari, Márta Korbonits
Feb 6, 2021·Endocrine·Judit Dénes, Márta Korbonits
Jul 2, 2021·Nature Reviews. Endocrinology·Erika PeverelliGiovanna Mantovani

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