Evidence map›Paper›PMID 38277113›Full record

ArticleJournal of assisted reproduction and genetics2024

A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility.

Zeynep Yalcin, Manqi Liang, Ibrahim M Abdelrazek, Corinna Friedrich, Eric Bareke, Amira Nabil, Frank Tüttelmann, Jacek Majewski, Ebtesam Abdalla, Seang-Lin Tan and 1 more

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Article in Journal of assisted reproduction and genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
3.3field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 3 countries.

Zeynep YalcinDepartment of Human Genetics, McGill University Health Centre, Montreal, QC, Canada.
Manqi LiangDepartment of Human Genetics, McGill University Health Centre, Montreal, QC, Canada.
Ibrahim M AbdelrazekDepartment of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Corinna FriedrichInstitute of Reproductive Genetics, University of Münster, 48149, Münster, Germany.
Eric BarekeDepartment of Human Genetics, McGill University Health Centre, Montreal, QC, Canada.
Amira NabilDepartment of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Frank TüttelmannInstitute of Reproductive Genetics, University of Münster, 48149, Münster, Germany.
Jacek MajewskiDepartment of Human Genetics, McGill University Health Centre, Montreal, QC, Canada.
Ebtesam AbdallaDepartment of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Seang-Lin TanOriginElle Fertility Clinic, Montreal, QC, Canada.
Rima SlimDepartment of Human Genetics, McGill University Health Centre, Montreal, QC, Canada. rima.slim@muhc.mcgill.ca.ORCID http://orcid.org/0000-0002-4060-2159
McGill University Health Centre · CAAlexandria University · EGUniversity of Münster · DEOttawa Fertility Centre · CA

Funding

Canadian Institute of Health Research PJT - 180509Mitacs IT31962
6 · The paper itself

Abstract

purposeTo investigate the genetic etiology of patients with female infertility.

methodsWhole Exome Sequencing was performed on genomic DNA extracted from the patient's blood. Exome data were filtered for damaging rare biallelic variants in genes with possible roles in reproduction. Sanger sequencing was used to validate the selected variants and segregate them in family members.

resultsA novel homozygous likely pathogenic variant, c.626G>A, p.Trp209*, was identified in the TERB1 gene of the patient. Additionally, we report a second homozygous pathogenic TERB1 variant, c.1703C>G, p.Ser568*, in an infertile woman whose azoospermic brother was previously described to be homozygous for her variant.

conclusionsHere, we report for the first time two homozygous likely pathogenic and pathogenic TERB1 variants, c.626G>A, p.Trp209* and c.1703C>G, p.Ser568*, respectively, in two unrelated women with primary infertility. TERB1 is known to play an essential role in homologous chromosome movement, synapsis, and recombination during the meiotic prophase I and has an established role in male infertility in humans. Our data add TERB1 to the shortlist of Meiosis I genes associated with human infertility in both sexes.

Indexed as

AzoospermiaCell Cycle ProteinsDNA-Binding ProteinsInfertility, MaleFemaleHomozygoteHumansMeiosisCell Cycle ProteinsDNA-Binding ProteinsTERB1 protein, humanFemale infertilityGeneticsMeiosisMutationTERB1

Identifiers

PMID38277113
PMCPMC10957843
OpenAlexW4391262115

What OpenQuestion holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.