Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

Abstract

With great interest we read the article by Diaz and colleagues ¹ providing further evidence of a neurodevelopmental disorder caused by bi-allelic variants disrupting the function of YIF1B, by reporting a second patient cohort and a mouse model. We had earlier reported six individuals from five unrelated families, harbouring bi-allelic protein truncating mutations in YIF1B, presenting with a progressive encephalopathy with various degrees of movement disorders, microcephaly and epilepsy. ²