Defining the clinical phenotypes associated with mutations causing dysfunction of the RAS-MAPK pathway

 RAS-MAPK pathway / Posted 1 year ago

We propose to study a group of genetic conditions, called RAS¬MAPK pathway disorders, in which high rates of congenital abnormalities, learning difficulties, short stature and other health and developmental problems occur (including childhood tumours). The incidence of these various problems is not yet fully known in the different conditions. This study seeks to find out how common these different features are across the conditions. Changes in many different genes cause these disorders. The proteins that these genes code for all work together in a biochemical pathway, called the RAS¬MAPK pathway. We will examine what particular problems are associated with particular changes (mutations) in each of the genes. Some patients with these conditions do not currently have a known genetic reason for their condition, and we shall seek to identify new genes for these conditions. To do this, a group of patients will be studied, and blood and, where available, other tissue samples from these patients will be subject to molecular analysis. There is great variety in the severity of problems that people with these conditions have, and why this should be is currently poorly understood. It is possible that other genes will be shown to be important in how many difficulties an individual with one of these disorders may have. Such information arising from the study will potentially be useful to patients, their families and their doctors in the future.

  • Inclusion Criteria : Patients will be eligible for inclusion if they have a clinical diagnosis of one of the disorders of the RAS/MAPK pathway that include Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. Those patients where this group of disorders is within the differential diagnosis will also be eligible to participate
  • Exclusion Criteria : There are no specific exclusion criteria for this study. The suitability of any eligible patient for inclusion in the study will be assessed by the geneticist looking after them. Patients who might become too distressed by participation will not be elgible for inclusion, and any such judgement would be made by the clinician who knows them.
  • Study start date : 01/12/2010
  • Study end date : 31/12/2019
  • Wales-Based Study Contact : please speak to your clinician
  • Principal Investigator : Iris Egner
Contact details

Cardiff University,Cardiff

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