Papillorenal syndrome epidemiology and demographics: Difference between revisions

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== Overview ==
==Overview==
''Prevalence and prevalence at birth are not known. 177 mutation-positive cases (90 different families) have been reported. The number of mutation-negative individuals with clinical findings of Renal coloboma syndrome (RCS) is not known. There is no ethnic predilection.''
The Prevalence of the disease and the prevalence at birth is still unknown. In a study conducted in 90 families they found 177 mutation-positive cases. The number of individuals with mutation negative is not known in that study. The conclusion derived showed no ethnic predilection for the disease. The major component found in the causation of RCS is PAX2 gene (10q24) in half of the patients with renal and optic nerve abnormalities.
 
''Mutations in thePAX2gene (10q24) have been identified in about 1/2 of patients with renal hypodysplasia and abnormalities of the optic nerve. PAX2 mutations have been identified in about 9% of unselected individuals presenting with renal hypoplasia. The genetic basis of the remaining cases is not known.''


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== Epidemiology and Demographics ==
==Epidemiology and Demographics==
 


* The Prevalence of the disease and the prevalence at birth is still unknown.
* In a study conducted in 90 families they found 177 mutation-positive cases. The number of individuals with mutation negative is not known in that study. The conclusion derived showed no ethnic predilection for the disease.
* The major component found in the causation of RCS is PAX2 gene (10q24) in half of the patients with renal and optic nerve abnormalities<br />





Revision as of 01:33, 6 September 2020

Overview

The Prevalence of the disease and the prevalence at birth is still unknown. In a study conducted in 90 families they found 177 mutation-positive cases. The number of individuals with mutation negative is not known in that study. The conclusion derived showed no ethnic predilection for the disease. The major component found in the causation of RCS is PAX2 gene (10q24) in half of the patients with renal and optic nerve abnormalities.


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Epidemiology and Demographics

  • The Prevalence of the disease and the prevalence at birth is still unknown.
  • In a study conducted in 90 families they found 177 mutation-positive cases. The number of individuals with mutation negative is not known in that study. The conclusion derived showed no ethnic predilection for the disease.
  • The major component found in the causation of RCS is PAX2 gene (10q24) in half of the patients with renal and optic nerve abnormalities




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