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3 results on '"target panel sequencing"'

1. Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life

Author

Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, and Byung Chan Lim

Subjects
epilepsy, seizure, genetic test, diagnostic yield, target panel sequencing, Neurology. Diseases of the nervous system, RC346-429
Abstract

Purpose: We aimed to evaluate the diagnostic yield of epilepsy gene panel testing in epilepsy patients whose seizures began within the first year after birth. We included 112 patients with seizure onset before 12 months and no known etiology.Methods: Deep targeted sequencing with a custom-designed capture probe was performed to ensure the detection of germline or mosaic sequence variants and copy number variations (CNVs).Results: We identified pathogenic or likely pathogenic variants in 53 patients (47.3%, 53/112), including five with pathogenic CNVs. Two putative pathogenic mosaic variants in SCN8A and KCNQ2 were also detected and validated. Those with neonatal onset (61.5%, 16/26) or early infantile onset (50.0%, 29/58) showed higher diagnostic rates than those with late infantile onset (28.5%, 8/28). The diagnostic rate was similar between patients with a specific syndrome (51.9%, 27/52) and those with no recognizable syndrome (43.3%, 26/60).Conclusion: Epilepsy gene panel testing identified a genetic cause in nearly half of the infantile onset epilepsy patients. Since the phenotypic spectrum is expanding and characterizing it at seizure onset is difficult, this group should be prioritized for epilepsy gene panel testing.

Published
2019
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2. Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Author

Jang, Se Song, Kim, Soo Yeon, Kim, Hunmin, Hwang, Hee, Chae, Jong Hee, Kim, Ki Joong, Kim, Jong-Il, and Lim, Byung Chan

Subjects
EPILEPSY, DNA copy number variations, PEOPLE with epilepsy, GENETIC testing
Abstract

Purpose: We aimed to evaluate the diagnostic yield of epilepsy gene panel testing in epilepsy patients whose seizures began within the first year after birth. We included 112 patients with seizure onset before 12 months and no known etiology. Methods: Deep targeted sequencing with a custom-designed capture probe was performed to ensure the detection of germline or mosaic sequence variants and copy number variations (CNVs). Results: We identified pathogenic or likely pathogenic variants in 53 patients (47.3%, 53/112), including five with pathogenic CNVs. Two putative pathogenic mosaic variants in SCN8A and KCNQ2 were also detected and validated. Those with neonatal onset (61.5%, 16/26) or early infantile onset (50.0%, 29/58) showed higher diagnostic rates than those with late infantile onset (28.5%, 8/28). The diagnostic rate was similar between patients with a specific syndrome (51.9%, 27/52) and those with no recognizable syndrome (43.3%, 26/60). Conclusion: Epilepsy gene panel testing identified a genetic cause in nearly half of the infantile onset epilepsy patients. Since the phenotypic spectrum is expanding and characterizing it at seizure onset is difficult, this group should be prioritized for epilepsy gene panel testing. [ABSTRACT FROM AUTHOR]

Published
2019
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3. An Original Target Genetic Panel to Diagnose Neurodegenerative Diseases on the Basis of Next-Generation Sequencing: First Experience

Author

V. V. Ustinova, S. L. Timerbaeva, V.E. Kunetsky, Sergey N. Illarioshkin, M. S. Stepanova, N. Yu. Abramycheva, Ya.I. Alekseev, E. Yu. Fedotova, and S. A. Klyushnikov

Subjects
Genetics, СЕКВЕНИРОВАНИЕ СЛЕДУЮЩЕГО ПОКОЛЕНИЯ,ТАРГЕТНОЕ ПАНЕЛЬНОЕ СЕКВЕНИРОВАНИЕ,НЕЙРОДЕГЕНЕРАТИВНЫЕ ЗАБОЛЕВАНИЯ,ДНК-ДИАГНОСТИКА,МУТАЦИИ ГЕНОВ, next generation sequencing, target panel sequencing, neurodegenerative diseases, DNA diagnostics, gene mutation, General Medicine, Gene mutation, Biology, General Biochemistry, Genetics and Molecular Biology, Exome sequencing, DNA sequencing
Abstract

Цель исследования оценка эффективности разработанной нами диагностической панели, основанной на технологиях секвенирования следующего поколения (Next Generation Sequencing, NGS), для диагностики широкого спектра социально значимых наследственных дегенеративных заболеваний мозга. Материалы и методы. С помощью разработанной диагностической таргетной NGS-панели (на платформе Illumina MiSeq, США), которая направлена на секвенирование кодирующей области 300 генов нейродегенеративных заболеваний, проявляющихся двигательными и когнитивными расстройствами, проведен мутационный скрининг ДНК, полученной от 32 пациентов с неуточненным диагнозом. Результаты. Применение оригинальной генетической панели позволило выявить ряд редких форм наследственной нейродегенеративной патологии с идентифицированными (с помощью NGS) и подтвержденными (с помощью прямого секвенирования) мутациями в генах: спиноцеребеллярных атаксий и параплегий, паркинсонизма, дистоний, нейрометаболических заболеваний. У 11 пациентов выявлено 12 мутаций в 10 различных генах, обусловливающих развитие трех аутосомно-рецессивных заболеваний (гены DDHD1, NPC1 и RARS) и восьми заболеваний, связанных с аутосомно-доминантным наследованием (гены SPAST, SPTBN2, GRN, GCH1, LRRK2, NOTCH3 и AGER). Заключение. Панельный скрининг неясных случаев нейродегенеративных заболеваний, выполненный с помощью оригинальной таргетной модели, позволяет выявить и подтвердить последующие мутации в различных генах для более чем трети обследованных случаев.The aim of the study was to assess the efficacy of a diagnostic panel based on next-generation sequencing (NGS) and developed by our team, to diagnose a wide range of socially significant hereditary degenerative diseases of the brain. Materials and Methods. Using the diagnostic target NGS panel (powered by Illumina MiSeq, USA), designed to sequence the encoding area of 300 genes related to neurodegenerative diseases manifesting with movement and cognitive disorders, we performed a mutation screening of the DNA of 32 patients with an otherwise obscure diagnosis. Results. The application of the original genetic panel revealed a number of rare hereditary neurodegenerative pathologies with mutations in genes for spinocerebellar ataxias and paraplegias, parkinsonism, dystonias, and neurometabolic diseases, identified by NGS and confirmed by direct sequencing. In 11 patients, 12 mutations were found in 10 different genes, causing the development of three autosomal recessive diseases (genes DDHD1, NPC1 and RARS) and eight diseases associated with autosomal dominant inheritance (genes SPAST, SPTBN2, GRN, GCH1, LRRK2, NOTCH3 and AGER). Conclusion. Panel screening of uncertain cases of neurodegenerative diseases using this bespoke target model enabled us to reveal and subsequently confirm mutations in various genes for more than a quarter of the examined patients.

Published
2016

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