Document Details

Document Type : Article In Journal 
Document Title :
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
 
Document Language : English 
Abstract : BACKGROUND: We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. Karyotype was normal in all three foetuses (46, XX) and comparative genomic hybridization microarray analysis detected no pathogenic copy number variants. RESULTS: Whole-exome sequencing and genome-wide homozygosity mapping revealed a previously reported frameshift mutation in the OBSL1 gene (c.1273insA p.T425nfsX40), consistent with a diagnosis of 3-M Syndrome 2 (OMIM #612921), which had not been anticipated from the clinical findings. CONCLUSIONS: Our study provides novel insight into the early clinical manifestations of this form of 3-M syndrome, and demonstrates the utility of whole exome sequencing as a tool for prenatal diagnosis in particular when there is a family history suggestive of a recurrent set of clinical symptoms. 
ISSN : 1471-2164 
Journal Name : BMC Genomics 
Volume : 16 
Issue Number : 1 
Publishing Year : 1436 AH
2015 AD 
Article Type : Article 
Added Date : Monday, April 25, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Christian R MarshallMarshall, Christian RResearcher  
Sandra A FarrellFarrell, Sandra AResearcher  
Donna CushingCushing, Donna Researcher  
Tara PatonPaton, Tara Researcher  
Tracy L StockleyStockley, Tracy LResearcher  
Dimitri J StavropoulosStavropoulos, Dimitri JResearcher  
Peter N RayRay, Peter NResearcher  
Michael SzegoSzego, Michael Researcher  
Lynette LauLau, Lynette Researcher  
Sergio L PereiraPereira, Sergio LResearcher  
Ronald D CohnCohn, Ronald DResearcher  
Richard F WintleWintle, Richard FResearcher  
Adel M AbuzenadahAbuzenadah, Adel MResearcher  
Muhammad Abu-ElmagdAbu-Elmagd, Muhammad Researcher  
Stephen W SchererScherer, Stephen WResearcher stephen.scherer@sickkids.ca

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