Two fetuses of hereditary tubulinopathies with TUBB deficiency

Learning points for cliniciansThis report identified two novel missense TUBB variants in two prenatal cases diagnosed with tubulinopathies.This report highlights molecular and MRI diagnosis of tubulinopathies is crucial for diagnosis and genetic counseling of individuals with tubulinopathies. Case reportTubulinopathies are a group of clinically heterogenous neurological disorders 1 , caused by pathogenic variants in tubulin genes 1, 2 , which is characterized by classic lissencephaly, cerebellar hypoplasia or agenesis of the corpus callosum, centrally predominant pachygyria, microlissencephaly and dysgyria 3 .Clinical manifestations mainly include variable of delayed psychomotor development, microcephaly, and facial deformities.However, some cases of tububinopathies may have no obvious clinical phenotypes, except for imaging abnormalities.We provide two prenatal cases with inherited tububinopathies in the hope that clinicians will pay more attention to this rare