BMP8B – Premature Menopause

BMP8B has been identified as a candidate gene in the etiology of premature menopause (MONDO_0001119). In a comprehensive review of primary ovarian insufficiency (POI), BMP8B was included among 107 genes implicated in folliculogenesis and ovarian function, highlighting its potential involvement (PMID:34794894). Targeted screening studies using next‑generation sequencing panels in Brazilian cohorts have also flagged BMP8B as one of 16 genes bearing pathogenic changes in POI (PMID:33095795). Despite its recurrent inclusion across independent genetic studies, specific variant data for BMP8B have not been reported, and no direct family segregation evidence (e.g., additional affected relatives with segregating variants) has been demonstrated.

Inheritance for POI‑associated genes, including BMP8B, is most consistent with an autosomal recessive pattern. Functional studies directly assessing BMP8B are currently lacking, and its mechanism of pathogenicity remains speculative; however, its biological plausibility is supported by its role in ovarian development. While the overall genetic and experimental data are limited by the absence of detailed variant findings and segregation metrics, the convergence of evidence from the genetic screening panels and the review literature supports its consideration when evaluating patients with premature menopause. Key take‑home: BMP8B, although supported by limited genetic and functional evidence, should be included in diagnostic panels for POI to enhance clinical decision‑making, while further studies are needed to solidify its role in disease causation.

References

• Best practice & research. Clinical endocrinology & metabolism • 2022 • Genetics of ovarian insufficiency and defects of folliculogenesis PMID:34794894
• PloS one • 2020 • Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency PMID:33095795

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