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Premature ovarian insufficiency is a common form of female infertility affecting up to 4% of women and characterised by amenorrhea with elevated gonadotropin before the age of 40. Oocytes require controlled DNA breakage and repair for homologous recombination and the maintenance of oocyte integrity. Biallelic disruption of the DNA damage repair gene, Fanconi anemia complementation group A (FANCA), is a common cause of Fanconi anaemia, a syndrome characterised by bone marrow failure, cancer predisposition, physical anomalies and POI. There is ongoing dispute about the role of heterozygous FANCA variants in POI pathogenesis, with insufficient evidence supporting causation. Here, we have identified biallelic FANCA variants in French sisters presenting with POI, including a novel missense variant of uncertain significance and a likely pathogenic deletion that initially evaded detection. Functional studies indicated no discernible effect on DNA damage sensitivity in patient lymphoblasts. These novel FANCA variants add evidence that heterozygous loss of one allele is insufficient to cause DNA damage sensitivity and POI. We propose that intragenic deletions, that are relatively common in FANCA, may be missed without careful analysis, and could explain the presumed causation of heterozygous variants. Accurate variant curation is critical to optimise patient care and outcomes., (© 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Radiation science and radiation biology are fields where milestones have been set by numerous woman researchers, as represented by Marie Curie. This shows that it is a research field that is like a model of research diversity in modern society. In this review, I will describe what kind of research activities I have conducted as a Japanese woman researcher in the field of radiation science research. In addition, as a Japanese woman radiobiologist, I will describe the sense of mission I felt after the Fukushima Nuclear Power Plant accident and the research issues we must challenge in the future. As a Japanese woman researcher, I have felt a bias in gender balance in the field of science in Japan. Also, after the Fukushima nuclear Power Plant accident, I sometimes felt that woman researchers would be more suitable when sharing research results and specialized knowledge with the general public. In recent years, the importance of STEAM (Science-Technology-Engineering-Art-Mathematics) education has been highlighted all over the world, and I believe that the field of radiation science falls exactly into the STEAM education category. STEAM education is for people of all gender. I hope that radiation science research will lead to various younger generations, and that the gender balance of Japanese scientific researchers will increase. [ABSTRACT FROM AUTHOR]