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Article

Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.

Journal of assisted reproduction and genetics - 1 May 2022

Sirchia Fabio, Giorgio Elisa, Cucinella Laura, Valente Enza Maria, Nappi Rossella E

Abstract excerpt

Premature ovarian insufficiency (POI) has a strong genetic component, but, in most cases, the etiology remains unidentified. PSMC3IP is an autosomal recessive gene for POI and ovarian dysgenesis, and so far, biallelic mutations in this gene have been described in only four independent families, with all affected members showing primary amenorrhea. Here, we report on the first family with recessive variants in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35352317
DOI: 10.1007/s10815-022-02471-7
PMCID: PMC9107541

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