A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.

Premature or primary ovarian insufficiency (POI) affects approximately 1% of women and can be due to a variety of causes. Genetic causes include syndromic and non-syndromic POI. There are several promising candidate genes for whom a clear Mendelian association with non-syndromic POI has not yet been conclusively established, including GDF9. GDF9 is an oocyte-secreted factor and is part of the TGF-beta superfamily of morphogens. It has an important role in follicular development and granulosa cell maturation. We report the case of two siblings with primary ovarian insufficiency (POI) and a homozygous truncating variant in GDF9 (c.604C>T; p.(Gln202*). This report helps establish a clear gene-disease association between GDF9 and POI and argues for routine evaluation for GDF9 variants in patients undergoing genomic investigation for POI.

Citation

Kunal P Verma, Bryony Thompson, James Wolfe, Sarah Price, Frida Djukiadmodjo, Alison Trainer. A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency. Journal of assisted reproduction and genetics. 2021 Jun;38(6):1539-1543

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PMID: 33797006

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