EP145: Severe Pierre Robin sequence and hydrocephalus in infant with TUBB3 variant

Abstract

Pathogenic variants in TUBB3 are associated with congenital fibrosis of the extraocular muscles 3 (CFEOM3) and cortical dysplasia, complex, with other brain malformations 1 (CDCBM1). CDCBM1 is considered a tubulinopathy. Tubulinopathies are a group of conditions that include a large spectrum of brain malformations that are caused by pathogenic variants in genes encoding different tubulin isotypes. There are at least nine different alpha and ß tubulin isotypes, which are closely related subunits that are major components of microtubules (MTs).