Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F22%3A00076091" target="_blank" >RIV/00159816:_____/22:00076091 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/65269705:_____/22:00076091 RIV/00216224:14110/22:00126826

Výsledek na webu

<a href="https://www.sciencedirect.com/science/article/pii/S1525505022000130?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/pii/S1525505022000130?via%3Dihub</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.yebeh.2022.108564" target="_blank" >10.1016/j.yebeh.2022.108564</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation

Popis výsledku v původním jazyce

Aim: The primary goal was to determine the yield of next-generation sequencing (NGS) epilepsy gene panels used for epilepsy etiology diagnosing using a multidisciplinary approach and to demonstrate the importance of genotype-phenotype correlations. The secondary goal was to evaluate the application of precision medicine in selected patients. Methods: This single-center retrospective study included a total of 175 patients (95 males and 80 females) aged 0-19 years. They were examined between 2015 and 2020 using an NGS epilepsy gene panel (270 genes). A bioinformatic analysis was performed including copy number variation identification. Thorough genotype-phenotype correlation was performed. Results: Out of 175 patients, described pathogenic variants or novel variants with clear pathogenic impact were identified in 30 patients (17.14%). Genotype-phenotype correlations and parental DNA anal-ysis were performed, and genetic diagnosis was confirmed on the basis of the results in another 16 out of 175 patients (9.14%). The diagnostic yield of our study increased from 30 to 46 patients (by 53.33%) by the precise genotype-phenotype correlation. Interpretation: We emphasize a complex genotype-phenotype correlation and a multidisciplinary approach in evaluating the results of the NGS epilepsy gene panel, which enables the most accurate genetic diagnosis and correct interpretation of results.

Název v anglickém jazyce

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation

Popis výsledku anglicky

Aim: The primary goal was to determine the yield of next-generation sequencing (NGS) epilepsy gene panels used for epilepsy etiology diagnosing using a multidisciplinary approach and to demonstrate the importance of genotype-phenotype correlations. The secondary goal was to evaluate the application of precision medicine in selected patients. Methods: This single-center retrospective study included a total of 175 patients (95 males and 80 females) aged 0-19 years. They were examined between 2015 and 2020 using an NGS epilepsy gene panel (270 genes). A bioinformatic analysis was performed including copy number variation identification. Thorough genotype-phenotype correlation was performed. Results: Out of 175 patients, described pathogenic variants or novel variants with clear pathogenic impact were identified in 30 patients (17.14%). Genotype-phenotype correlations and parental DNA anal-ysis were performed, and genetic diagnosis was confirmed on the basis of the results in another 16 out of 175 patients (9.14%). The diagnostic yield of our study increased from 30 to 46 patients (by 53.33%) by the precise genotype-phenotype correlation. Interpretation: We emphasize a complex genotype-phenotype correlation and a multidisciplinary approach in evaluating the results of the NGS epilepsy gene panel, which enables the most accurate genetic diagnosis and correct interpretation of results.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30200 - Clinical medicine

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

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

Název periodika

Epilepsy &amp; Behavior

ISSN

1525-5050

e-ISSN

1525-5069

Svazek periodika

128

Číslo periodika v rámci svazku

MAR

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

6

Strana od-do

108564

Kód UT WoS článku

000761035600024

EID výsledku v databázi Scopus

2-s2.0-85122932096