Searchable abstracts of presentations at key conferences in endocrinology

ea0021p210 | Endocrine tumours and neoplasia | SFEBES2009

Functional characterisation of aryl hydrocarbon receptor interacting protein (AIP) promoter and silent mutations

Igreja Susana , Chahal Harvinder , King Peter , Bolger Graeme , Srirangalingam Umasuthan , Guasti Leonardo , Chappel Paul , Gueorguiev Maria , Guegan Katie , Stals Karen , Khoo Bernard , Kumar Ajith , Ellard Sian , Grossman Ashley B , Korbonits Marta

AIP mutations predispose to familial isolated pituitary adenomas (FIPA) and 45 different AIP mutations have been described in the literature. Most of these mutations result in complete disruption of the C-terminal region of the AIP protein due to early stop codons. In this study we were particularly interested in the effect of AIP mutations in the promoter region (−270−−269CG & −220C) and 2 synonymous mutations (c.249G>T, p.G83= and c...