Two novel biallelic mutations in <i>PSMC3IP</i> in a patient affected by premature ovarian insufficiency
Libin Mei, Lingling Huang, Yanru Huang, Xiaoling Wu, He Huang, Xuemei He, Zhiying Su, Ping Li
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 <em>PSMC3IP</em>. 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 <em>PSMC3IP</em> in the etiology of POI and provide a novel insight into elucidating the mechanisms of female infertility.