Exome sequencing as a diagnostic tool in patients with rare genetic syndromes

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F25%3A10503163" target="_blank" >RIV/00064165:_____/25:10503163 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/25:10503163 RIV/00216208:11120/25:43928850 RIV/00216208:11130/25:10503163 RIV/00064203:_____/25:10503163
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=bChJsTFjoT" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=bChJsTFjoT</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s44411-025-00371-7" target="_blank" >10.1007/s44411-025-00371-7</a>

Result language
angličtina
Original language name
Exome sequencing as a diagnostic tool in patients with rare genetic syndromes
Original language description
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.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics

Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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