scholarly journals The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing

2021 ◽  
Author(s):  
Anna Skorczyk-Werner ◽  
Dorota Raczynska ◽  
Anna Wawrocka ◽  
Dinara Zholdybayeva ◽  
Nurgul Yakhiyayeva ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Optic Atrophy ◽  
Eye Diseases ◽  
Next Generation ◽  
Gyrate Atrophy ◽  
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.

MG-134 Validation of a customizable next generation sequencing panel for ear and eye diseases

2015 ◽  
Vol 52 (Suppl 2) ◽  
pp. A12.3-A13
Author(s):  
Neal Cody ◽  
Maria Delio ◽  
Jinlian Wang ◽  
Geetu Vij ◽  
Guiqing Cai ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Eye Diseases ◽  
Next Generation ◽  
Generation Sequencing

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

2019 ◽  
Vol 488 ◽  
pp. 104-110 ◽  
Author(s):  
Rahma Felhi ◽  
Lamia Sfaihi ◽  
Majida Charif ◽  
Valerie Desquiret-Dumas ◽  
Céline Bris ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Optic Atrophy ◽  
Next Generation ◽  
Mtdna Depletion ◽  
Polg Mutation ◽  
Generation Sequencing

Next-Generation Sequencing

2012 ◽  
Vol 42 (9) ◽  
pp. 8
Author(s):  
PETER HULICK
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Generation Sequencing

Labordiagnostik bei gastrointestinalen Tumoren

2020 ◽  
Vol 11 (05) ◽  
pp. 232-238
Author(s):  
Marcus Kleber
Keyword(s):  
Next Generation Sequencing ◽  
Kolorektales Karzinom ◽  
Next Generation ◽  
Generation Sequencing

ZUSAMMENFASSUNGDas kolorektale Karzinom (KRK) ist einer der häufigsten malignen Tumoren in Deutschland. Einer frühzeitigen Diagnostik kommt große Bedeutung zu. Goldstandard ist hier die Koloskopie. Die aktuelle S3-Leitlinie Kolorektales Karzinom empfiehlt zum KRK-Screening den fäkalen okkulten Bluttest. Für das Monitoring von Patienten vor und nach Tumorresektion werden die Messung des Carcinoembryonalen Antigens (CEA) und der Mikrosatellitenstabilität empfohlen. Für die Auswahl der korrekten Chemotherapie scheint derzeit eine Überprüfung des Mutationsstatus, mindestens des KRAS-Gens und des BRAF-Gens, sinnvoll zu sein. Eine Reihe an neuartigen Tumormarkern befindet sich momentan in der Entwicklung, hat jedoch noch nicht die Reife für eine mögliche Anwendung in der Routinediagnostik erreicht. Den schnellsten Weg in die breite Anwendung können Next-Generation-Sequencing-basierte genetische Tests finden.

Darstellung einer verminderten T-Zellrezeptorvariabilität bei refraktärer Zöliakie Typ II mittels Next Generation Sequencing

2014 ◽  
Vol 52 (08) ◽  
Author(s):  
M Schumann ◽  
J Ritter ◽  
K Zimmermann ◽  
JD Schulzke ◽  
B Siegmund ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Generation Sequencing
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