Familial Infantile spasm syndrome due to biallelic variants in the gene encoding UFM1-specific peptidase 2 (UFSP2)

Abstract

West syndrome (WS) or infantile spasm syndrome (ISs) belongs to a group of early epileptic encephalopathies. This electro clinical syndrome is defined by a triad of infantile spasms, presence of hypsarrhythmia in electroencephalography (EEG) and developmental arrest or regression. The aetiology is heterogeneous and remains unknown in up to one-third of the cases. We report two siblings, born of consanguineous parents who presented with neurodevelopmental delay and drug refractory epilepsy harbouring a homozygous variant (c 0.344 T > A/ p.Val115Glu) in UFSP2 gene encoding UFM1-specific peptidase 2 protein. There are very few reports relating genes involved in Ufmylation to neurodevelopmental disorders. Our report along with the case series by Ni M et al adds UFSP2 in the list of genes associated with infantile spasm syndrome.