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Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive Volume 20, numéro 4, August 2018

Figure 1

Dysmorphic features, MRI, and genetic analyses. (A) Images of the patient at seven years of age showing his expressionless face, micrognathia, and hands with tapering fingers. (B) T1-weighted MRI showing corpus callosum thinning, cerebellar atrophy, ventricular dilation, and white matter hyperintensities in periventricular regions. (C) Left: identification of a microdeletion in chromosomal band 3q22.1, encompassing the entire UBA5 gene(3q22.1; Chr3:129762317-132948291; 3.2-Mb deletion); right: quantitative polymerase chain reaction confirmed that this deletion was inherited from the father. (D) Sequencing results showing the missense mutation, c.214C>T (p.Arg72Cys), present in the patient and his mother, but not his father.