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Mutations in MSH5 in primary ovarian insufficiency

8 Feb 2017

Abstract excerpt

Primary ovarian insufficiency (POI) is a genetically heterogeneous disorder that occurs in familial or sporadic fashion. Through whole exome sequencing in a Chinese pedigree with POI, we identified a novel homozygous missense mutation (ENST00000375755: c.1459G > T, p.D487Y) in the MSH5 gene in two sisters with POI. The homologous mutation in mice resulted in atrophic ovaries without oocytes, and in vitro...

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PMID: 28175301
DOI: 10.1093/hmg/ddx044

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