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

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

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
JournalThe American Journal of Human Genetics
Volume101
Issue number4
DOIs
StatePublished - Sep 29 2017

Fingerprint

Dive into the research topics of 'Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2'. Together they form a unique fingerprint.

Cite this