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<p>Next-generation sequencing methods have opened a door to a new era of genotype testing. As this method has become more affordable and available we are now routinely able to look into patients’ DNA in detail, searching for new and known gene variants when suspected. Primary aldosteronism is the most common and underdiagnosed cause of secondary hypertension in adults. One of the uncommon causes of primary aldosteronism is familial hyperaldosteronism, found frequently in the pediatric population, with its five most common and well-described forms. We present a review and a case of severe arterial hypertension and familial hyperaldosteronism diagnosed in a 15-year-old girl who has been treated with central precocious puberty since the age of five. After establishing the proper diagnosis and beginning the appropriate treatment, whole-exome sequencing (WES) revealed several genetic variants that in combination are likely the underlying cause of the primary aldosteronism and central precocious puberty phenotype. Next-generation sequencing should be considered in patients where a rare genetic syndrome is suspected.</p>

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Exome Sequencing as a Diagnostic Tool in Patients With Rare Genetic Syndromes

  • 期刊论文

  • 发表日期：

    2025年10月24日

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  • Jan Zeman,
  • Zdenek Musil,
  • Pavla Jencova,
  • Katerina Hirschfeldova,
  • Eva Flachsova,
  • Tomas Seeman,
  • Vladimir Musil,
  • Petr Zach,
  • Ales Vicha

摘要

Next-generation sequencing methods have opened a door to a new era of genotype testing. As this method has become more affordable and available we are now routinely able to look into patients’ DNA in detail, searching for new and known gene variants when suspected. Primary aldosteronism is the most common and underdiagnosed cause of secondary hypertension in adults. One of the uncommon causes of primary aldosteronism is familial hyperaldosteronism, found frequently in the pediatric population, with its five most common and well-described forms. We present a review and a case of severe arterial hypertension and familial hyperaldosteronism diagnosed in a 15-year-old girl who has been treated with central precocious puberty since the age of five. After establishing the proper diagnosis and beginning the appropriate treatment, whole-exome sequencing (WES) revealed several genetic variants that in combination are likely the underlying cause of the primary aldosteronism and central precocious puberty phenotype. Next-generation sequencing should be considered in patients where a rare genetic syndrome is suspected.