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Noonan syndrome: partial factor XI deficiency
M de Haan1, J J vd Kamp, E Briët
1Department of Pediatrics, University Hospital Leiden, The Netherlands.
American Journal of Medical Genetics
|February 1, 1988
Summary
Noonan syndrome is linked to a partial deficiency in coagulation factor XI, a protein crucial for blood clotting. This finding may explain the bleeding issues observed in some individuals with this genetic disorder.
Area of Science:
- Genetics
- Hematology
- Pediatric Medicine
Background:
- Noonan syndrome is a genetic disorder characterized by multiple extracardiac abnormalities.
- An unexplained bleeding tendency has been anecdotally reported in individuals with Noonan syndrome.
- Previous research suggested a potential link between Noonan syndrome and partial factor XI deficiency.
Purpose of the Study:
- To investigate the prevalence of partial factor XI deficiency in patients with Noonan syndrome.
- To determine if a correlation exists between Noonan syndrome and coagulation factor XI levels.
- To explore the potential cause of bleeding tendencies in Noonan syndrome patients.
Main Methods:
- Evaluated 9 patients diagnosed with Noonan syndrome.
- Assessed coagulation factor XI levels in patients and their parents.
- Compared factor XI levels between Noonan syndrome patients and unaffected parents.
Main Results:
- Four out of nine Noonan syndrome patients (44%) exhibited partial factor XI deficiency, with levels ranging from 30-65%.
- Noonan syndrome patients had a significantly lower mean factor XI level (67%) compared to normal parents (109%).
- Three parents, two of whom also had Noonan syndrome, were included in the study.
Conclusions:
- The study provides evidence supporting a relationship between Noonan syndrome and partial factor XI deficiency.
- Partial factor XI deficiency may contribute to the bleeding diathesis observed in some individuals with Noonan syndrome.
- Further research is warranted to elucidate the genetic and clinical implications of this association.