RAS pathway and disease: neurofibromatosis and beyond

Published on September 3, 2014   45 min

Other Talks in the Series: Molecular Genetics of Human Disease

0:00
Hello. My name is Eric Legius. I'm a human genetics professor at University of Leuven, and I want to introduce you in the interesting world of neurofibromatosis type one and the rasopathies.
0:16
Neurofibromatosis step one is a genetic disorder with an autosomal dominant inheritance pattern. Its gene is known, and it's localized on chromosome 17, band q11.2. The prevalence at birth is one 2,700. It is considered to be a familial tumour syndrome. On the other hand, cognitive problems such as learning disabilities are also very frequently observed in children. The diagnosis is based on clinical criteria.
0:51
In 1988, an NIH panel has made diagnostic criteria for the clinical diagnosis of neurofibromatosis type one. On this slide, all the different criteria are listed, and two or more of these criteria have to be fulfilled to make a clinical diagnosis of neurofibromatosis type one. And on the next slide, we will show several of these clinical features.
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RAS pathway and disease: neurofibromatosis and beyond

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