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Nephrol Dial Transplant (2001) 16: 2130-2132
© 2001 European Renal Association-European Dialysis and Transplant Association

Editorial Comments

GATA3 and kidney development: why case reports are still important

Hilde Van Esch1 and Rudy William Bilous2,

1Centre for Human Genetics, University Hospital Leuven, Belgium and 2The James Cook University Hospital, Middlesbrough, UK

Keywords: GATA3 haplo-insufficiency; Di George syndrome; HDR syndrome

Introduction

The recent discovery that GATA3 haplo-insufficiency in man is responsible for hypoparathyroidism, sensorineural deafness, and renal anomalies (HDR) syndrome [1], has provided new insights into the genetic control of renal development. This is a salutary lesson of how a clinical case report can lead to important advances in the understanding of normal and abnormal embryonic development.

From Di George syndrome to HDR syndrome

The discovery of the gene responsible for the HDR syndrome occurred as part of a detailed study of individuals with the Di George syndrome (Mendelian Inheritance in Man (MIM) number 188400). These patients present abnormalities in . . . [Full Text of this Article]

GATA3 role in embryonic development

GATA3 and kidney development

Implications for future research in renal tract abnormalities

Notes

References


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