-
Something wrong with this record ?
Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation
O. Horák, M. Burešová, S. Kolář, K. Španělová, B. Jeřábková, R. Gaillyová, K. Česká, K. Réblová, J. Šoukalová, J. Zídková, L. Fajkusová, H. Ošlejšková, I. Rektor, P. Danhofer
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Epilepsy * diagnosis genetics MeSH
- Phenotype MeSH
- Genetic Association Studies MeSH
- Genetic Testing methods MeSH
- Humans MeSH
- Mutation MeSH
- Retrospective Studies MeSH
- DNA Copy Number Variations * MeSH
- High-Throughput Nucleotide Sequencing methods MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
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 analysis 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.
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc22010850
- 003
- CZ-PrNML
- 005
- 20220506130244.0
- 007
- ta
- 008
- 220425s2022 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.yebeh.2022.108564 $2 doi
- 035 __
- $a (PubMed)35065395
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Horák, Ondřej $u Department of Pediatric Neurology, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno Epilepsy Centre, Czech Republic
- 245 10
- $a Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation / $c O. Horák, M. Burešová, S. Kolář, K. Španělová, B. Jeřábková, R. Gaillyová, K. Česká, K. Réblová, J. Šoukalová, J. Zídková, L. Fajkusová, H. Ošlejšková, I. Rektor, P. Danhofer
- 520 9_
- $a 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 analysis 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.
- 650 12
- $a variabilita počtu kopií segmentů DNA $7 D056915
- 650 12
- $a epilepsie $x diagnóza $x genetika $7 D004827
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a genetické asociační studie $7 D056726
- 650 _2
- $a genetické testování $x metody $7 D005820
- 650 _2
- $a vysoce účinné nukleotidové sekvenování $x metody $7 D059014
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a fenotyp $7 D010641
- 650 _2
- $a retrospektivní studie $7 D012189
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Burešová, Martina $u Centre of Molecular Biology and Genetics, Internal Haematology and Oncology Clinic, Masaryk University and University Hospital Brno, Czech Republic
- 700 1_
- $a Kolář, Senad $u Department of Pediatric Neurology, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno Epilepsy Centre, Czech Republic
- 700 1_
- $a Španělová, Klára $u Department of Pediatric Neurology, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno Epilepsy Centre, Czech Republic
- 700 1_
- $a Jeřábková, Barbora $u Centre of Molecular Biology and Genetics, Internal Haematology and Oncology Clinic, Masaryk University and University Hospital Brno, Czech Republic
- 700 1_
- $a Gaillyová, Renata $u Institute of Medical Genetics and Genomics, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic
- 700 1_
- $a Česká, Katarína $u Department of Pediatric Neurology, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno Epilepsy Centre, Czech Republic
- 700 1_
- $a Réblová, Kamila $u Centre of Molecular Biology and Genetics, Internal Haematology and Oncology Clinic, Masaryk University and University Hospital Brno, Czech Republic
- 700 1_
- $a Šoukalová, Jana $u Institute of Medical Genetics and Genomics, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic
- 700 1_
- $a Zídková, Jana $u Centre of Molecular Biology and Genetics, Internal Haematology and Oncology Clinic, Masaryk University and University Hospital Brno, Czech Republic
- 700 1_
- $a Fajkusová, Lenka $u Centre of Molecular Biology and Genetics, Internal Haematology and Oncology Clinic, Masaryk University and University Hospital Brno, Czech Republic
- 700 1_
- $a Ošlejšková, Hana $u Department of Pediatric Neurology, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno Epilepsy Centre, Czech Republic
- 700 1_
- $a Rektor, Ivan $u Central European Institute of Technology (CEITEC), Masaryk University, Brno, Czech Republic; Brno Epilepsy Center, First Department of Neurology, St. Anne's University Hospital and Medical Faculty of Masaryk University, Brno, Czech Republic
- 700 1_
- $a Danhofer, Pavlína $u Department of Pediatric Neurology, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno Epilepsy Centre, Czech Republic. Electronic address: Danhofer.pavlina@fnbrno.cz
- 773 0_
- $w MED00005701 $t Epilepsy & behavior : E&B $x 1525-5069 $g Roč. 128, č. - (2022), s. 108564
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/35065395 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20220425 $b ABA008
- 991 __
- $a 20220506130236 $b ABA008
- 999 __
- $a ok $b bmc $g 1788791 $s 1162048
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2022 $b 128 $c - $d 108564 $e 20220119 $i 1525-5069 $m Epilepsy & behavior $n Epilepsy Behav $x MED00005701
- LZP __
- $a Pubmed-20220425
