Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency

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....

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Veröffentlicht in:	Clinical genetics 2024-09, Vol.106 (3), p.321-335
Hauptverfasser:	Tucker, Elena J., Sharp, Michael F., Lokchine, Anna, Bell, Katrina M., Palmer, Catherine S., Kline, Brianna L., Robevska, Gorjana, Bergen, Jocelyn, Dulon, Jérôme, Stojanovski, Diana, Ayers, Katie L., Touraine, Philippe, Crismani, Wayne, Jaillard, Sylvie, Sinclair, Andrew H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles Amenorrhea Anemia Bone cancer Complementation DNA damage DNA damage repair DNA repair FANCA Fanconi anaemia Fanconi Anemia - diagnosis Fanconi Anemia - genetics Fanconi Anemia Complementation Group A Protein - genetics Fanconi syndrome Female functional genomics Genetic Predisposition to Disease Gonadotropins Heterozygote Homologous recombination Humans Infertility Life Sciences Lymphoblasts Mutation - genetics Oocytes Ovaries Pedigree Pituitary (anterior) premature ovarian insufficiency Primary Ovarian Insufficiency - genetics Siblings
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