A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes

A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes

Abstract We report on a consanguineous family with two infertile sisters with oocyte arrest and prematurely condensed sperm chromosomes. A genome-wide linkage scan and exome sequencing revealed a homozygous variant in the gene for the thyroid receptor interacting protein 13 (TRIP13), c.518G˃A (p.Arg...

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Bibliographic Details
Main Authors: Michal Schweiger, André Reis, Esen Gümüslü, Alice Krebsova, Andreas Raab, Christine Lang, Denise Horn, Karl Sperling, Heidemarie Neitzel
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Molecular Cytogenetics
Subjects:
Human TRIP13
Yeast pch2
Oocyte arrest
Premature chromosome condensation
Sister chromatid exchanges
Complementation study
Online Access:https://doi.org/10.1186/s13039-025-00722-7
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