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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/25:10503163 RIV/00216208:11120/25:43928850 RIV/00216208:11130/25:10503163 RIV/00064203:_____/25:10503163

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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&apos; 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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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&apos; 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Bratislavské lekárske listy / Bratislava Medical Journal

ISSN

0006-9248

e-ISSN

1336-0345

Svazek periodika

126

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

SK - Slovenská republika

Počet stran výsledku

5

Strana od-do

3301-3305

Kód UT WoS článku

001599484600001

EID výsledku v databázi Scopus

2-s2.0-105019624101