Matches in SemOpenAlex for { <https://semopenalex.org/work/W2744802368> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2744802368 abstract "Background and Aim In Europe, rare diseases are considered the pathologies that affect fewer than 1 in 2000 persons. More than 6000 rare diseases were identified, and almost 80% of them have a genetic cause. Many rare disorders are characterised by a broad diversity of common symptoms and signs leading to misdiagnosis and delaying treatment. Aicardi syndrome is a rare disorder mainly characterised trough agenesis or dysgenesis of the corpus callosum, seizures and chorioretinal lacunae, affecting about 1 in 1 05 000 to 1 67 000 newborns. It is estimated that there are approximately 4000 affected individuals worldwide. This case report aims to outline the difficulties met in the diagnostic process of a case with Aicardi-Goutieres syndrome and the importance of a multidisciplinary medical team in rare diseases diagnostic. Method We have investigated an 18 months old girl with hemiparesis and generalised hypertonia starting at the age of 9–10 months. MRI showed leukoencephalopaty, mostly suggestive for a lysosomal storage disorder. The metabolic work-up including serum ammonia and lactate, tandem mass and urine organic aminoacid was inconclusive. The lysosomal disease panel performed was negative. DNA isolated and purified from peripheral venous blood was further assessed by NGS platform (Mi-Seq, Illumina) using a panel containing 26 genes responsible for leukodystrophies. Results Assessment through NGS panel identified two different mutations in RNASEH2B gene: c.529G>A (p.Ala177Thr) and c.554T>G (p.Val185GLy). The result was further validated through Sanger sequencing. Sanger sequencing of both parents revealed that the mother was carrier for c.554T>G (p.Val185GLy) mutation, while the father carried the other mutation identified in the child. Conclusion Based on literature review (scientific papers and international databases like DECIPHER and OMIM) we were able to correlate the clinical phenotype identified our patient with the mutations obtained through NGS assessment. The clinical diagnostic of this patients was Aicardi – Goutieres syndrome. Genetic results may offer significant data to make possible phenotype- genotype correlation. Therefore, genetic testing plays an important role in the diagnosis and future management of rare disorders Key-words: rare diseases, Aicardi syndrome, RNASEH2B mutation" @default.
- W2744802368 created "2017-08-17" @default.
- W2744802368 creator A5002312438 @default.
- W2744802368 creator A5015222210 @default.
- W2744802368 creator A5026069394 @default.
- W2744802368 creator A5077003512 @default.
- W2744802368 creator A5085142723 @default.
- W2744802368 date "2017-06-01" @default.
- W2744802368 modified "2023-10-17" @default.
- W2744802368 title "P56 Challenges in rare diseases diagnostic: aicardi-goutieres syndrome – a case report" @default.
- W2744802368 doi "https://doi.org/10.1136/archdischild-2017-313273.144" @default.
- W2744802368 hasPublicationYear "2017" @default.
- W2744802368 type Work @default.
- W2744802368 sameAs 2744802368 @default.
- W2744802368 citedByCount "0" @default.
- W2744802368 crossrefType "proceedings-article" @default.
- W2744802368 hasAuthorship W2744802368A5002312438 @default.
- W2744802368 hasAuthorship W2744802368A5015222210 @default.
- W2744802368 hasAuthorship W2744802368A5026069394 @default.
- W2744802368 hasAuthorship W2744802368A5077003512 @default.
- W2744802368 hasAuthorship W2744802368A5085142723 @default.
- W2744802368 hasConcept C104317684 @default.
- W2744802368 hasConcept C118552586 @default.
- W2744802368 hasConcept C12125453 @default.
- W2744802368 hasConcept C142724271 @default.
- W2744802368 hasConcept C16671776 @default.
- W2744802368 hasConcept C187212893 @default.
- W2744802368 hasConcept C2778183499 @default.
- W2744802368 hasConcept C2779134260 @default.
- W2744802368 hasConcept C2779248504 @default.
- W2744802368 hasConcept C2779701055 @default.
- W2744802368 hasConcept C2779969927 @default.
- W2744802368 hasConcept C2780787877 @default.
- W2744802368 hasConcept C2910638406 @default.
- W2744802368 hasConcept C501734568 @default.
- W2744802368 hasConcept C51679486 @default.
- W2744802368 hasConcept C54355233 @default.
- W2744802368 hasConcept C60644358 @default.
- W2744802368 hasConcept C71924100 @default.
- W2744802368 hasConcept C76818968 @default.
- W2744802368 hasConcept C86803240 @default.
- W2744802368 hasConceptScore W2744802368C104317684 @default.
- W2744802368 hasConceptScore W2744802368C118552586 @default.
- W2744802368 hasConceptScore W2744802368C12125453 @default.
- W2744802368 hasConceptScore W2744802368C142724271 @default.
- W2744802368 hasConceptScore W2744802368C16671776 @default.
- W2744802368 hasConceptScore W2744802368C187212893 @default.
- W2744802368 hasConceptScore W2744802368C2778183499 @default.
- W2744802368 hasConceptScore W2744802368C2779134260 @default.
- W2744802368 hasConceptScore W2744802368C2779248504 @default.
- W2744802368 hasConceptScore W2744802368C2779701055 @default.
- W2744802368 hasConceptScore W2744802368C2779969927 @default.
- W2744802368 hasConceptScore W2744802368C2780787877 @default.
- W2744802368 hasConceptScore W2744802368C2910638406 @default.
- W2744802368 hasConceptScore W2744802368C501734568 @default.
- W2744802368 hasConceptScore W2744802368C51679486 @default.
- W2744802368 hasConceptScore W2744802368C54355233 @default.
- W2744802368 hasConceptScore W2744802368C60644358 @default.
- W2744802368 hasConceptScore W2744802368C71924100 @default.
- W2744802368 hasConceptScore W2744802368C76818968 @default.
- W2744802368 hasConceptScore W2744802368C86803240 @default.
- W2744802368 hasLocation W27448023681 @default.
- W2744802368 hasOpenAccess W2744802368 @default.
- W2744802368 hasPrimaryLocation W27448023681 @default.
- W2744802368 hasRelatedWork W1985436040 @default.
- W2744802368 hasRelatedWork W2078779725 @default.
- W2744802368 hasRelatedWork W2088645009 @default.
- W2744802368 hasRelatedWork W2262748594 @default.
- W2744802368 hasRelatedWork W2508524184 @default.
- W2744802368 hasRelatedWork W2557852457 @default.
- W2744802368 hasRelatedWork W2593484539 @default.
- W2744802368 hasRelatedWork W2745818436 @default.
- W2744802368 hasRelatedWork W2886177318 @default.
- W2744802368 hasRelatedWork W2886597590 @default.
- W2744802368 hasRelatedWork W2943231903 @default.
- W2744802368 hasRelatedWork W3038825611 @default.
- W2744802368 hasRelatedWork W3086249563 @default.
- W2744802368 hasRelatedWork W3088746617 @default.
- W2744802368 hasRelatedWork W3120801419 @default.
- W2744802368 hasRelatedWork W3129257550 @default.
- W2744802368 hasRelatedWork W3134091456 @default.
- W2744802368 hasRelatedWork W3157023920 @default.
- W2744802368 hasRelatedWork W3159847545 @default.
- W2744802368 hasRelatedWork W3170288308 @default.
- W2744802368 isParatext "false" @default.
- W2744802368 isRetracted "false" @default.
- W2744802368 magId "2744802368" @default.
- W2744802368 workType "article" @default.