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Article

Familial primary ovarian insufficiency associated with an SYCE1 point mutation: defective meiosis elucidated in humanized mice.

Molecular human reproduction - 1 Jul 2020

Hernández-López Diego, Geisinger Adriana, Trovero María Fernanda, Santiñaque Federico F, Brauer Mónica, Folle Gustavo A, Benavente Ricardo, Rodríguez-Casuriaga Rosana

Abstract excerpt

More than 50% of cases of primary ovarian insufficiency (POI) and nonobstructive azoospermia in humans are classified as idiopathic infertility. Meiotic defects may relate to at least some of these cases. Mutations in genes coding for synaptonemal complex (SC) components have been identified in humans, and hypothesized to be causative for the observed infertile phenotype. Mutation SYCE1 c.721C>T (former...

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PMID: 32402064
DOI: 10.1093/molehr/gaaa032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Familial primary ovarian insufficiency associated with an SYCE1 point mutation: defective meiosis elucidated in humanized mice.PMID 32402064Read ↗

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