Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena J Tucker
Disruption of meiosis and DNA repair genes is associated with female fertility disorders like premature ovarian insufficiency (POI). In this study, we identified a homozygous missense variant in the HELQ gene (c.596 A>C; p.Gln199Pro) through whole exome sequencing in a POI patient, a condition associated with disrupted ovarian function and female infertility. HELQ, an enzyme involved in DNA repair, plays a crucial role in repairing DNA cross-links and has been linked to germ cell maintenance, fertility, and tumour suppression in mice...
March 4, 2024: Genes