Abstract Search

ea0029p1442 | Pituitary Clinical | ICEECE2012

Are “in silico” predictions reliable regarding splice-site mutations? – Studies in the aryl hydrocarbon receptor-interacting protein (AIP)

Martucci F. , Trivellin G. , Khoo B. , Owusu-Antwi S. , Stals K. , Kumar A. , Ellard S. , Grossman A. , Bouloux P. , Korbonits M.

Background: It is often difficult to define the clinical relevance of a novel gene variant. In silico analyses of variants located close to exonintron-junctions are utilised to predict the result of these basepair changes. We have previously identified two splice-site variants in AIP and confirmed the predicted changes for c.249G>T, p.G83AfsX15 and c.807C>T. We identified the c.469-2A>G heterozygous variant located at the end of intron-3 in a childhood...

0 shares

ea0038p311 | Pituitary | SFEBES2015

The burden of AIP mutations in pituitary adenoma patients from the UK

Caimari F , Dang M N , Gabrovska P , Hernandez-Ramirez L C , Stals K , Bussell A M , Cranston T , Karavitaki N , Kumar A V , Hunter S , Kearney T , Trainer P J , Izatt I , Bevan J , Quinton R , Grieve J , Baldeweg S E , Grossman A B , Morrison P , Korbonits M

Introduction: Familial isolated pituitary adenoma (FIPA) and young-onset sporadic pituitary adenoma patients are suggested to be screened for mutations in AIP, a gene described in 2006 and amenable to UK testing since 2008.Methods: affected subjects have been tested in Exeter and Oxford genetic laboratories. Data were collected from 120 FIPA-families and 193 sporadic cases with young-onset disease (<30y) from 49 centres in the UK. The Mann&#...

0 shares

Endocrine Abstracts

Are “in silico” predictions reliable regarding splice-site mutations? – Studies in the aryl hydrocarbon receptor-interacting protein (AIP)

The burden of AIP mutations in pituitary adenoma patients from the UK

BiosciAbstracts