Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency

Research question: Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 13-year-old girl with primary amenorrhoea? Design: A case report of a next-generation sequencing panel of 24 genes associated with syndromal and nonsyndromal POI was conducted. Results: A homozygous missense variant c.1076C>T, p.(Pro359Leu) in BMP15 was identified. Conclusions: The biallelic variant c.1076C >T, p.(Pro359Leu) in BMP15 is associated with primary ovarian failure.