1 results match your criteria: "Eastern Piedmont University and Interdisciplinary Research Center on Autoimmune Diseases[Affiliation]"
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency.
J Endocrinol Invest
September 2009
Laboratory of Human Genetics, Department of Medical Sciences, Eastern Piedmont University and Interdisciplinary Research Center on Autoimmune Diseases, 28100 Novara, Italy.
Article Synopsis
- A mutation in the POU1F1 gene has been linked to combined pituitary hormone deficiency (CPHD) in a 12.5-year-old girl, resulting in severe hormonal deficiencies and growth failure.
- The study identified a novel mutation (IVS2-3insA) that caused two abnormal splicing outcomes, leading to non-functional protein products.
- Relatives carrying one copy of the mutation showed reduced prolactin levels but did not display any clinical symptoms, highlighting that having one normal gene may not fully compensate for the mutated one.