Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency

Mei,Libin; Huang,Lingling; Huang,Yanru; Wu,Xiaoling; He,Huang; He,Xuemei; Su,Zhiying; Li,Ping

doi:10.3892/mmr.2021.12561

Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency

Authors:
- Libin Mei
- Lingling Huang
- Yanru Huang
- Xiaoling Wu
- Huang He
- Xuemei He
- Zhiying Su
- Ping Li
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Affiliations: Department of Reproductive Medicine, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian 361003, P.R. China
Published online on: December 8, 2021 https://doi.org/10.3892/mmr.2021.12561
Article Number: 45

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Abstract

Premature ovarian insufficiency (POI) is a heterogeneous condition occurring when a woman experiences a loss of ovarian activity before the age of 40. POI is one of the most common reproductive endocrine diseases in women of childbearing age. The present study investigated the clinical manifestations and genetic features of a Chinese patient affected by POI. Next‑generation whole‑exome capture sequencing with Sanger direct sequencing were applied to the proband and her clinically unaffected family members. Two novel compound heterozygous mutations were identified in PSMC3IP. The first was a splicing mutation (c.597+1G>T) that was inherited from her father, whereas the second mutation (c.268G>C p.D90H) was discovered in both her mother and younger sister. The two mutations were co‑segregated with the disease phenotype in the family. In conclusion, the findings of the present study further support the key role of PSMC3IP in the etiology of POI and provide a novel insight into elucidating the mechanisms of female infertility.

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