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From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing

European Journal of Human Genetics (2025)Cite this article

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Abstract

Reproductive genetic carrier screening (RGCS) is expanding in both public and private healthcare. The primary aim is to identify carrier status for genetic disorders, inform reproductive decision making and promote reproductive autonomy. As screening panels have increased, the potential for findings with personal health implications rises. We report the prevalence of COL4A3/COL4A4 heterozygous variants within a population undergoing RGCS in a private setting and propose a comprehensive management plan for the ongoing care of this patient cohort. Acknowledging that comprehensive guidelines exist for genetic testing and management of Alport syndrome as a broad patient group, this communication seeks to highlight the increasingly common finding of autosomal dominant Alport syndrome and proposes accessible and practical strategies for the clinicians encountering these patients.

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Authors and Affiliations

  1. Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia

    Gráinne Butler, David J. Amor & Catherine Quinlan

  2. Royal Children’s Hospital, Melbourne, Australia

    Gráinne Butler, David J. Amor & Catherine Quinlan

  3. Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Gráinne Butler, David J. Amor & Catherine Quinlan

Authors
  1. Gráinne Butler
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  2. David J. Amor
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  3. Catherine Quinlan
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Contributions

GB, DA and CQ conceived the idea for the paper. GB wrote the initial draft. All authors contributed to the manuscript, revised the manuscript and approved the final version.

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Correspondence to Gráinne Butler.

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Butler, G., Amor, D.J. & Quinlan, C. From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing. Eur J Hum Genet (2025). https://doi.org/10.1038/s41431-025-01953-3

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  • DOI: https://doi.org/10.1038/s41431-025-01953-3

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