C Ramirez-Renteria and colleagues conduct a study to evaluate the molecular abnormalities in the AIP gene in a cohort of Mexican patients with acromegaly with disease onset before the age of 30. They identified the well-known truncation variants c.910C>T (p.Arg304Ter) and also new variants: 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. They also revealed that the prevalence of AIP variants in young Mexican patients with acromegaly is similar to that of European cohorts.
Ramirez-Renteria, Claudia et al. Endocrine.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway