Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility
Ist Teil von
Journal of assisted reproduction and genetics, 2024-03, Vol.41 (3), p.751-756
Ort / Verlag
New York: Springer US
Erscheinungsjahr
2024
Quelle
MEDLINE
Beschreibungen/Notizen
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.