< Back to previous page

Project

NF1-like syndromes: identification of new genes and further characterization of Legius syndrome using the mouse model.

The project is directed towards further characterization of a disorder we recently described, Legius syndrome (LS). It is a milder variant of a better known disease neurofibromatosis type 1 (NF1). LS is caused by SPRED1 inactivation and belongs to a larger group of similar diseases (neuro‐cardio‐facial‐cutaneous syndromes) connected to the same pathway. We will collect more individuals with LS to better delineate clinical characteristics, identify rare complications and study SPRED1 missense mutations. Spred1 knock-out mice perform poorly in specific memory tests and will be studied in detail. There are patients with signs and symptoms similar to NF1 or LS without genetic errors in NF1 or SPRED1. We will identify genes responsible for unresolved cases and study their function.
Date:1 Oct 2011 →  30 Sep 2017
Keywords:NF1, Neurofibromatosis type 1, SPRED1, Legius syndrome
Disciplines:Laboratory medicine, Palliative care and end-of-life care, Regenerative medicine, Other basic sciences, Other health sciences, Nursing, Other paramedical sciences, Other translational sciences, Other medical and health sciences