A Report of Two Homozygous TERB1 Protein-truncating Variants in Two Unrelated Women with Primary Infertility

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2024 Jan 26

PMID 38277113

Authors

Zeynep Yalcin

Manqi Liang

Ibrahim M Abdelrazek

Corinna Friedrich

Eric Bareke

Amira Nabil

Frank Tuttelmann

Jacek Majewski

Ebtesam Abdalla

Seang-Lin Tan

Rima Slim

Affiliations

Soon will be listed here.

Abstract

Purpose: To investigate the genetic etiology of patients with female infertility.

Methods: Whole 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.

Results: A 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.

Conclusions: Here, 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.

Citing Articles

Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.

Rezaei M, Liang M, Yalcin Z, Martin J, Kazemi P, Bareke E J Clin Invest. 2024; 134(22).

PMID: 39545410 PMC: 11563684. DOI: 10.1172/JCI170669.

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