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Recurrent UMOD Mutations in Australian Families with Autosomal Dominant Tubulointerstitial Kidney Disease- A Possible Founder Effect?

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  • Kewei Zhang

    (Department of Medicine, Austin and Northern Health, the University of Melbourne, Heidelberg, Victoria, Australia)

Abstract

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare cause of end-stage renal failure (ESRF), mutations of which primarily affect UMOD (ADTKD-UMOD) gene. Over 120 mutations have been identified and the majority are clustered in UMOD exons 3 and 4. Some mutations have been found with high frequency in families outside Australasia; however, diagnosis of mutations in Australian families with ADTKD is uncommon. The aim of this study was to examine mutations in UMOD in five Australian families with ADTKD and compare with literatures.

Suggested Citation

  • Kewei Zhang, 2023. "Recurrent UMOD Mutations in Australian Families with Autosomal Dominant Tubulointerstitial Kidney Disease- A Possible Founder Effect?," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 51(3), pages 42688-42695, July.
    • Handle: RePEc:abf:journl:v:51:y:2023:i:3:p:42688-42695
    DOI: 10.26717/BJSTR.2023.51.008100
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