Document Details

Document Type : Article In Journal 
Document Title :
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
 
Document Language : English 
Abstract : Several cohort studies have investigated the molecular basis of von Willebrand disease (VWD); however, these have mostly focused on European and North American populations. This study aimed to investigate mutation spectrum in 26 index cases (IC) from Turkey diagnosed with all three VWD types, the majority (73%) with parents who were knowingly related. IC were screened for mutations using multiplex ligation-dependent probe amplification and analysis of all von Willebrand factor gene (VWF) exons and exon/intron boundaries. Selected missense mutations were expressed in vitro. Candidate VWF mutations were identified in 25 of 26 IC and included propeptide missense mutations in four IC (two resulting in type 1 and two in recessive 2A), all influencing VWF expression in vitro. Four missense mutations, a nonsense mutation and a small in-frame insertion resulting in type 2A were also identified. Of 15 type 3 VWD IC, 13 were homozygous and two compound heterozygous for 14 candidate mutations predicted to result in lack of expression and two propeptide missense changes. Identification of intronic breakpoints of an exon 17-18 deletion suggested that the mutation resulted from non-homologous end joining. This study provides further insight into the pathogenesis of VWD in a population with a high degree of consanguineous partnerships. 
ISSN : 0000 
Journal Name : Thrombosis and haemostasis 
Volume : 110 
Issue Number : 2 
Publishing Year : 1434 AH
2013 AD 
Article Type : Article 
Added Date : Tuesday, April 5, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Daniel J HampshireHampshire, Daniel J Investigator  
Adel M AbuzenadahAbuzenadah, Adel M Researcher  
Ashley CartwrightCartwright, Ashley Researcher  
Nawal S Al-ShammariAl-Shammari, Nawal S Researcher  
Rachael E CoyleCoyle, Rachael E Researcher  

Files

File NameTypeDescription
 38453.pdf pdf 

Back To Researches Page