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• W2372800908 abstract "Objective Vanishing white matter disease,inherited with autosomal recessiveu manner,is supposed to be one of the most prevalent inherited leukoencephalopathy in childhood.It is the first known hereditary human disease due to the direct defects in translation initiation process,with the gene defects in EIF2B1-5,encoding the five subunits of eukaryotic translation initiation factor 2B(eIF2B α,β,γ,δ and e) identified in 2001 to 2002.The pathogenesis of vanishing white matter disease is still far from well understood.Methods The analysis of clinical features and EIF2B1-5 mutation screening was performed in 12 Chinese children,who fulfilled the diagnostic criteria clinically proposed by van der Knaap.Genomic DNA was extracted from peripheral leukocytes.Mutation screening for EIF2B5 was carried out in each patient firstly,followed by screening for EIF2B4,EIF2B2,EIF2B3 and EIF2B1.For novel EIF2B5 mutations identified,in vitro functional study was carried out in transfected HEK 293 cells.Results These patients,consisting of 8 boys and 4 girls,came from 12 core families.All patients presented with classical phenotypes.All individuals were free of symptoms at birth and their developmental milestones were normal or mildly delayed.The symptoms began to appear from 1 year and 6 months to 6 years and 8 months of age,usually with subacute onset.The initial symptom was usually movement disturbance.The illness course was 9 months to 7 years until the last follow up.In all cases,the disease progressed,and with episodic aggravation in 7 cases.The brain MRI showed symmetric and diffuse abnormal signal in periventricular white matter in all cases,with a part having signal intensity close to cerebrospinal fluid on T1-weighted,T2-weighted and flair images.Sixteen mutations were identified in EIF2B5,EIF2B3 and EIF2B2,consisting of 9 novel mutations and 7 mutations reported previously.Nine novel mutations included 7 missense mutations(EIF2B5:c.185AT,p.D62V;c.1004GC,p.C335S;c.1126AG,p.N376D;EIF2B3:c.140GA,p.G47E;c.1037TC,p.I346T;EIF2B2:c.254 TA,p.V85E;c.922 GA,p.V308M),1 nonsense mutation(EIF2B5:c.805CT,R269X),and 1 deletion mutation(EIF2B5:c.1827-1838del,p.S610-D613del).EIF2B3 mutation,accounting for 18.8% of total mutations found in this study,was more prevalent than previous reports in Caucasian population(7%).A hot spot mutation in EIF2B3 was identified.Further functional study on five novel EIF2B5 mutations revealed that p.R296X and p.S610-D613del mutations resulted in significant loss of the mutant protein.Conclusions Vanishing white matter disease patients with mutations were firstly reported in China.Our study identified 9 novel EIF2B mutations and revealed the unique mutation spectrum in Chinese patients.EIF2B5 mutations,p.R296X and p.S610-D613del,were probably the cause of loss of protein function.Further functional analysis of other mutations is ongoing." @default.
• W2372800908 created "2016-06-24" @default.
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• W2372800908 date "2010-01-01" @default.
• W2372800908 modified "2023-09-27" @default.
• W2372800908 title "Genetical and clinical study on twelve Chinese children with leukoencephalopathy with vanishing white matter disease" @default.
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