scholarly journals Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease

2019 ◽  
Vol 21 (3) ◽  
pp. 503-513 ◽  
Author(s):  
Maryke Schoonen ◽  
Izelle Smuts ◽  
Roan Louw ◽  
Joanna L. Elson ◽  
Etresia van Dyk ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Pediatric Patient ◽  
Mitochondrial Disease ◽  
Ethnically Diverse ◽  
Next Generation ◽  
Patient Cohort ◽  
Generation Sequencing

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing

2019 ◽  
Vol 44 ◽  
pp. 14-20 ◽  
Author(s):  
Isabel Diebold ◽  
Ulrike Schön ◽  
Rita Horvath ◽  
Oliver Schwartz ◽  
Elke Holinski-Feder ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Rare Variants ◽  
Next Generation ◽  
Patient Cohort ◽  
Generation Sequencing

scholarly journals Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

2012 ◽  
Vol 4 (118) ◽  
pp. 118ra10-118ra10 ◽  
Author(s):  
S. E. Calvo ◽  
A. G. Compton ◽  
S. G. Hershman ◽  
S. C. Lim ◽  
D. S. Lieber ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Mitochondrial Disease ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Jennyfer M. García-Cárdenas ◽  
Ana Karina Zambrano ◽  
Patricia Guevara-Ramírez ◽  
Santiago Guerrero ◽  
Gabriel Runruil ◽  
...  
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Pediatric Patient ◽  
Anaplastic Astrocytoma ◽  
Next Generation ◽  
Generation Sequencing

Fatal Psychrobacter sp. infection in a pediatric patient with meningitis identified by metagenomic next-generation sequencing in cerebrospinal fluid

2015 ◽  
Vol 198 (2) ◽  
pp. 129-135 ◽  
Author(s):  
Ortiz-Alcántara Joanna María ◽  
Segura-Candelas José Miguel ◽  
Garcés-Ayala Fabiola ◽  
Gonzalez-Durán Elizabeth ◽  
Rodríguez-Castillo Araceli ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Next Generation Sequencing ◽  
Pediatric Patient ◽  
Next Generation ◽  
Generation Sequencing

Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic KRAS Variation

2022 ◽  
pp. 1-11
Author(s):  
Selma Demir ◽  
Hümeyra Yaşar Köstek ◽  
Aslıhan Sanrı ◽  
Ruken Yıldırım ◽  
Fatma Özgüç Çömlek ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Mapk Pathway ◽  
Mutation Screening ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Patient Cohort ◽  
Genes Encoding ◽  
Novel Variant ◽  
Mutation Distribution ◽  
Generation Sequencing

<b><i>Introduction:</i></b> Germline pathogenic variations of the genes encoding the components of the Ras-MAPK pathway are found to be responsible for RASopathies, a clinically and genetically heterogeneous group of diseases. In this study, we aimed to present the results of patients genetically investigated for RASopathy-related mutations in our Genetic Diagnosis Center. <b><i>Methods:</i></b> The results of 51 unrelated probands with RASopathy and 4 affected relatives (31 male, 24 female; mean age: 9.327 ± 8.214) were included in this study. Mutation screening was performed on DNA samples from peripheral blood of the patients either by Sanger sequencing of <i>PTPN11</i> hotspot regions (10/51 probands), or by a targeted amplicon next-generation sequencing panel (41/51 probands) covering the exonic regions of <i>BRAF</i>, <i>CBL</i>, <i>HRAS</i>, <i>KRAS</i>, <i>LZTR1</i>, <i>MAP2K1</i>, <i>MAP2K2</i>, <i>NF1</i>, <i>NRAS</i>, <i>PTPN11</i>, <i>RAF1</i>, <i>RASA2</i>, <i>RIT1</i>, <i>SHOC2</i>, <i>SOS1</i>, <i>SOS2</i>, <i>SPRED1</i>, and <i>KAT6B</i> genes. <b><i>Results:</i></b> Pathogenic/likely pathogenic variations found in 22 out of 51 probands (43.13%) and their 4 affected family members were located in <i>PTPN11</i>, <i>BRAF</i>, <i>KRAS</i>, <i>NF1</i>, <i>RAF1</i>, <i>SOS1</i>, and <i>SHOC2</i> genes. The c.148A&#x3e;C (p.Thr50Pro) variation in the <i>KRAS</i> gene was a novel variant detected in a sibling in our patient cohort. We found supportive evidence for the pathogenicity of the <i>NF1</i> gene c.5606G&#x3e;T (p.Gly1869Val) variation which we defined in an affected boy who inherited the mutation from his affected father. <b><i>Conclusion:</i></b> Although <i>PTPN11</i> is the most frequently mutated gene in our patient cohort, as in most previous reports, different mutation distribution among the other genes studied motivates the use of a next-generation sequencing gene panel including the possible responsible genes.

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