Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. Gene. 2012 Apr 1;496(2) :141-3.
VWM is caused by mutations in one of the five genes EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 that encode the five subunits of a protein called eukaryotic initiation factor
Mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter.
VWM is caused by recessive mutations in any of the five genes ( EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 ) encoding the subunits of eukaryotic translation initiation factor
We also have found novel mutations: c.1090C T in eIF2B4, c.314A G in eIF2B5, and c.877C T in eIF2B5. We did not find any mutations in eIF2B2 or eIF2B1 genes.
A larger series, reported in 2006 by Van der Knaap, studied 102 families, 69 of whom had mutations in eIF2B5, 18 in eIF2B2, 8 in eIF2B4, 5 in eIF2B3, and 2 in eIF2B1 genes
Epidemiological investigations have proved that the most prevalent mutations affect the eIF2B5 (57%), eIF2B4 (17%), and eIF2B2 (15%) genes. 6, 15 In 2004, Fogli et al 26 studied
Over 60% of all molecularly diagnosed patients have mutations in EIF2B5 and another 20% have mutations in EIF2B2 or EIF2B4 (Schiffmann et al. 2010).
Mutations in EIF2B3 and EIF2B 1 account for 9% and 2% of patients, respectively.
See More See Less Clinical Features Mutations in the genes that encode the five subunits of the eukaryotic translation initiation factor 2B ( EIF2B1-B5 ) cause a heterogeneous