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

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....

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Bibliographic Details
Published in:American journal of human genetics 2017-10, Vol.101 (4), p.603-608
Main Authors: Maddirevula, Sateesh, Coskun, Serdar, Alhassan, Saad, Elnour, Atif, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous, Arold, Stefan T., Alkuraya, Fowzan S.
Format: Article
Language:English
Subjects:
Adult
Cell Differentiation
DNA-Binding Proteins - genetics
Female
Fertilization in Vitro
GVBD
Humans
Infertility, Female - genetics
Infertility, Female - pathology
IVF
Male
maturation arrest
Meiosis
Mutation
Oocytes - metabolism
Oocytes - pathology
P100
PAT1A
Pedigree
Phenotype
Pregnancy
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Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2017.08.009