EIF2AK2

Professionals

Clinical features
EIF2AK2-related LEUDEN syndrome is a syndromic neurodevelopmental disorder with multi-system involvement. It is characterized by developmental delay early in the childhood followed by episodic neurologic regression, hypotonia, impaired coordination, ataxia, poor or absent speech with dysarthria, variable cognitive impairments, hypotonia, hypertonia, involuntary movements, variable motor abnormalities, skeletal features, facial features and visual impairments.

Prevalence
EIF2AK2-related LEUDEN syndrome is recently recognized in 2020 with 8 individuals (Mao et al. 2020). As the sample size is too low, more studies and patients would be needed to determine an unbiased prevalence of the syndrome.

Inheritance
EIF2AK2-related LEUDEN syndrome, caused by an EIF2AK2 gene missense mutation, is inherited in an autosomal dominant manner. All of the cases reported by Mao et al. (2020), result from a de novo variant. Most affected individuals represent single de novo occurrence in a family and the recurrence risk for future pregnancies is low (<1%). Prenatal testing is technically feasible, but the likelihood of recurrence in families who have an affected child is low.