New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage.

ABSTRACT:

Purpose

To investigate the pathogenesis of the recurrent preimplantation embryonic arrest characterized by direct cleavage.

Methods

Two affected individuals underwent time-lapse imaging to observe the cleavage behaviors in their final ICSI attempts. In addition, both patients were subjected to whole-exome sequencing. After the identification of possible causative genes, molecular modeling analyses were used to evaluate the possible effects of candidate mutations on protein secondary structure.

Results

All the bipronucleated (2PN) zygotes from both individuals presented multiple abnormal cleavage behaviors, particularly direct cleavage (DC) and subsequent cleavage arrest. Mutation analysis identified one new frameshift mutation c.1521dupC (p.S508Qfs*5) and two missense

SUBMITTER: Zheng W 

PROVIDER: S-EPMC7000584 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature