Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

Sateesh Maddirevula, Serdar Coskun, Saad Alhassan, Atif Elnour, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Stefan T. Arold, Fowzan S. Alkuraya*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


Infertility is a relatively common disorder of the reproductive system and remains unexplained in many cases. In vitro fertilization techniques have uncovered previously unrecognized infertility phenotypes, including oocyte maturation arrest, the molecular etiology of which remains largely unknown. We report two families affected by female-limited infertility caused by oocyte maturation failure. Positional mapping and whole-exome sequencing revealed two homozygous, likely deleterious variants in PATL2, each of which fully segregates with the phenotype within the respective family. PATL2 encodes a highly conserved oocyte-specific mRNP repressor of translation. Previous data have shown the strict requirement for PATL2 in oocyte-maturation in model organisms. Data gathered from the families in this study suggest that the role of PATL2 is conserved in humans and expand our knowledge of the factors that are necessary for female meiosis.

Original languageEnglish (US)
Pages (from-to)603-608
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - Oct 5 2017

Bibliographical note

Funding Information:
We thank the study participants for their enthusiastic participation. We also thank the Sequencing and Genotyping Core Facilities at the King Faisal Specialist Hospital and Research Center for their technical help. This work was funded in part by the King Abdulaziz City for Science and Technology ( 13-BIO1113-20 ), and we acknowledge the support of the Saudi Human Genome Project. The research reported by S.T.A. in this publication was supported by funding from the King Abdullah University of Science and Technology.

Publisher Copyright:
© 2017 American Society of Human Genetics


  • GVBD
  • IVF
  • P100
  • PAT1A
  • maturation arrest
  • meiosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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