Should aip gene screening be recommended in family members of FIPA patients with R16H variant?
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Should aip gene screening be recommended in family members of FIPA patients with R16H variant? Maria Chiara Zatelli • Maria Luisa Torre Rachele Rossi • Marta Ragonese • Francesco Trimarchi • Ettore degli Uberti Salvatore Cannavo`
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Published online: 23 August 2012 Ó Springer Science+Business Media, LLC 2012
Abstract Germline mutations of aryl-hydrocarbonreceptor interacting protein (AIP) are associated with pituitary adenoma predisposition. They occur in 20 % of familial isolated pituitary adenoma (FIPA) and in about 3–5 % of sporadic pituitary adenomas, especially in early onset somatotropinomas and prolactinomas. Our aim was to evaluate the clinical and genetic features of a large Italian FIPA family, where an AIP variant was identified. AIP direct sequencing from genomic DNA was carried out in 16 available family members. AIP R16H carriers also underwent magnetic resonance imaging and hormonal assessments. AIP mutations were also searched in 16 patients with sporadic growth hormone-secreting pituitary adenoma and in 6 unrelated patients in whom pituitary adenoma was excluded. We found an AIP R16H variation in two family members harbouring a pituitary adenoma and
Maria Chiara Zatelli and Maria Luisa Torre have equally contributed to the study. M. C. Zatelli R. Rossi E. degli Uberti Department of Biomedical Sciences and Advanced Therapies, Section of Endocrinology, University of Ferrara, Ferrara, Italy M. C. Zatelli E. degli Uberti Laboratorio in rete del Tecnopolo ‘‘Tecnologie delle terapie avanzate’’ (LTTA), University of Ferrara, Ferrara, Italy M. L. Torre M. Ragonese F. Trimarchi S. Cannavo` Department of Clinical and Experimental Medicine and Pharmacology, Section of Endocrinology, University of Messina, Messina, Italy S. Cannavo` (&) Sezione di Endocrinologia, Pad. H, piano 4, Azienda Ospedaliera Universitaria Policlinico ‘‘G. Martino’’, Via Consolare Valeria 1, 98125 Messina, Italy e-mail: [email protected]
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in 6 unaffected family members. No AIP mutation was found neither in growth hormone-secreting pituitary adenoma patients, nor in the unrelated patients without pituitary adenoma. We report a FIPA family harbouring an AIP R16H change, supporting the hypothesis that the latter represents a variant of unknown significance. Keywords
AIP FIPA Genetic screening Penetrance
Introduction Pituitary adenomas occurring among two or more members of the same family, with no clinical and/or genetic evidence suggestive for Multiple Endocrine Neoplasia type 1 (MEN 1) or Carney Complex (CNC), are defined as Familial Isolated Pituitary Adenomas (FIPA) [1]. An association between germline aryl hydrocarbon receptorinteracting protein (AIP) gene mutations and pituitary adenomas was first demonstrated by Vierimaa et al. [2]. AIP gene, which maps to the 11q13 region, consists of 6 exons and encodes for a 330 amino acid protein, that is involved in subcellular trafficking, transactivation potential and nuclear receptor stability [3], containing a number of conserved regions [4]. AIP is a ligand act
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