Introduction: Heterozygous mutation in the SPTAN1 gene on chromosome 9q34 causes developmental and epileptic encephalopathy-5 (DEE5) characterized by global developmental delay and the onset of tonic seizures or infantile spasms in the first months of life. Aicardi syndrome is a rare neurodevelopmental disorder characterized by the triad of infantile spasms, central chorioretinal lacunae and agenesis of the corpus callosum. It is considered mysterious due to its unknown aetiology; the causative mutation might be related to the X chromosome as only females are affected, yet no studies have identified pathogenic variants on the X chromosome to date.
Case Report: A female infant presented with myoclonic seizures and global developmental delay, right eye anophthalmus, left eye microphthalmos, cleft lip, cleft palate, marked hypomyelination of brain and absence of corpus callosum and abnormal sleep EEG and missense variant NM-001130438.3(SPTAN1): c.3034C>T (p.Arg1012Cys) reported by whole genome exon sequencing, which has not been reported previously as a pathogenic variant nor as a benign variant to the best of our knowledge.
Conclusion: This report will contribute to the phenotype associated with the SPTAN1 gene mutations and developmental and epileptic encephalopathy-5. Newer Genome sequencing studies might identify the underlying genetic cause and may help in better managing rare genetic disorders. Additional studies are needed to determine whether this missense mutation is associated with such a specific phenotype.
Keywords
Developmental And Epileptic Encephalopathy (DEE); Epileptic Encephalopathy (EE); SPTAN1; p.Arg1012Cys