Document Details

Document Type : Article In Journal 
Document Title :
Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11
Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11
 
Document Language : English 
Abstract : Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance. 
ISSN : 2212-0661 
Journal Name : Appl Transl Genom 
Volume : 5 
Issue Number : 1 
Publishing Year : 1436 AH
2015 AD 
Article Type : Article 
Added Date : Monday, April 18, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Cristina Castro-FernándezCastro-Fernández, Cristina Investigator  
Manuel AriasArias, Manuel Researcher  
Patricia Blanco-AriasBlanco-Arias, Patricia Researcher  
Luis Santomé-CollazoSantomé-Collazo, Luis Researcher  
Jorge AmigoAmigo, Jorge Researcher  
Ángel CarracedoCarracedo, Ángel Researcher  
Maria-Jesús SobridoSobrido, Maria-Jesús Researcher  

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