The identified genetic basis for Recurrent preimplantation embryo development (RPEA) is limited. This study explored dominant α-tubulin isotypes expressed in oocytes and early embryos and identified biallelic variants in TUBA1C or TUBA4A, resulting in spindle assembly defects and RPEA. The study demonstrates the importance of α-tubulin isotypes in preimplantation embryonic development and highlight novel gene/variant potentially responsible for RPEA, that may facilitate genetic diagnoses. (https://jmg.bmj.com/content/early/2024/08/29/jmg-2024-110163 )

A diagram indicate the pathogenesis of α-tubulin isotype variants.