scholarly journals The Diagnostic Value of Metagenomic Next-Generation Sequencing in <i>Angiostrongylus cantonensis</i> Encephalitis/Meningitis

2021 ◽  
Vol 11 (09) ◽  
pp. 216-226
Author(s):  
Xiaowei Fan ◽  
Qiang Wang ◽  
Peiqing Li ◽  
Bin Ai ◽  
Yongling Song ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Diagnostic Value ◽  
Angiostrongylus Cantonensis ◽  
Next Generation ◽  
Generation Sequencing

Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant

2018 ◽  
Vol 103 (3) ◽  
pp. 428-435 ◽  
Author(s):  
Junting Huang ◽  
Jiewen Fu ◽  
Shangyi Fu ◽  
Lisha Yang ◽  
Kailai Nie ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Low Income ◽  
Autosomal Recessive ◽  
Diagnostic Value ◽  
Consanguineous Marriage ◽  
Chinese Family ◽  
Next Generation ◽  
Gyrate Atrophy ◽  
Metabolic Analysis ◽  
Generation Sequencing

Background/AimGyrate atrophy of the choroid and retina (GACR) is an extremely rare autosomal recessive inherited disorder characterised by progressive vision loss. To identify the disease-causing gene in a consanguineous Chinese pedigree with GACR, we aimed to accurately diagnose patients with GACR through a combination of next-generation sequencing (NGS) genetic diagnosis, clinical imaging and amino acid metabolic analysis.MethodsA consanguineous Chinese pedigree with GACR, including two patients, was recruited and a comprehensive ophthalmological evaluation was performed. DNA was extracted from a proband and her family members, and the sample from the proband was analysed using targeted NGS. Variants ‎detected by NGS were confirmed by Sanger sequencing and subjected to segregation analysis. Tandem mass spectrometry (MS/MS) was subsequently performed for metabolic assessment.ResultsWe identified a ‎novel, deleterious, homologous ornithine aminotransferase (OAT) variant, c.G248A: p.S83N, which contributes to ‎the progression of GACR in patients. Our results showed that the p.S83N autosomal recessive ‎variant of OAT is most likely ‎pathogenic, with changes in protein stability drastically decreasing functionality. MS/MS verified that ornithine levels in patients were significantly elevated.ConclusionsRecruitment of a third-degree first cousin consanguineous marriage family with GACR allowed us to identify a novel pathogenicOATvariant in the Chinese population, broadening the mutation spectrum. Our findings reported the diagnostic value of a combination of NGS, retinal imaging and metabolic analysis of consanguineous marriage pedigrees in low-income/middle-income and low-incidence countries, including China, and may help to guide accurate diagnosis and ‎treatment of this disease.

Diagnostic value of ultra-deep targeted next-generation sequencing in patients with suspect pancreatic and periampullary lesions

Pancreatology ◽  
2017 ◽  
Vol 17 (3) ◽  
pp. S68
Author(s):  
Babs Sibinga Mulder ◽  
Sven Mieog ◽  
Akin Farina Sarasqueta ◽  
Henricus Handgraaf ◽  
Hans Vasen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Diagnostic Value ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

2015 ◽  
Vol 167 (8) ◽  
pp. 1822-1829 ◽  
Author(s):  
Yaojuan Jia ◽  
Jacoba J. Louw ◽  
Jeroen Breckpot ◽  
Bert Callewaert ◽  
Catherine Barrea ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Diagnostic Value ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele

2017 ◽  
Vol 92 (12) ◽  
pp. E664-E666 ◽  
Author(s):  
Kevin Uguen ◽  
Virginie Scotet ◽  
Chandran Ka ◽  
Isabelle Gourlaouen ◽  
Carine L'hostis ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Single Copy ◽  
Diagnostic Value ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Diagnostic value of ultra-deep targeted next-generation sequencing in patients with suspect pancreatic and periampullary lesions

HPB ◽  
2019 ◽  
Vol 21 ◽  
pp. S688
Author(s):  
B. Sibinga Mulder ◽  
S. Mieog ◽  
A. Farina Sarasqueta ◽  
H. Handgraaf ◽  
H. Vasen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Diagnostic Value ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Diagnostic Value of Next‐Generation Sequencing in an Unusual Sphenoid Tumor

2014 ◽  
Vol 19 (6) ◽  
pp. 623-630 ◽  
Author(s):  
Farzad Jamshidi ◽  
Erin Pleasance ◽  
Yvonne Li ◽  
Yaoqing Shen ◽  
Katayoon Kasaian ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Diagnostic Value ◽  
Next Generation ◽  
Generation Sequencing
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