Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.

ABSTRACT: Oocyte maturation arrest results in female infertility, but the genetic determinants of human oocyte maturation arrest remain largely unknown. Previously, we identified TUBB8 mutations responsible for human oocyte maturation arrest, indicating the important role of genetic factors in the disorder. However, TUBB8 mutations account for only around 30% of individuals with oocyte maturation arrest; thus, the disorder is likely to involve other genetic factors that are as yet unknown. Here, we initially identified a homozygous nonsense mutation of PATL2 (c.784C>T [p.Arg262^∗]) in a consanguineous family with a phenotype characterized by human oocyte germinal vesicle (GV) arrest. Subsequent mutation screening of PATL2 in a cohort of 179 individuals identified four additional independen

SUBMITTER: Chen B 

PROVIDER: S-EPMC5630194 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature