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Purpose  Premature ovarian insufficiency (POI), which is characterized by early menopause before the age of 40 years, affects approximately 1–5% of women. Cytoplasmic polyadenylation element binding protein 1 (CPEB1) is a post-transcriptional regulatory protein that is highly expressed in germ cells and promotes oocytes maturation, and several studies have found microdeletions of chromosome 15q25.2, which contains the  CPEB1  gene, in POI patients. However, the deleted region also includes other plausible genes, and thus the contribution of  CPEB1  to POI is uncertain. The present study aimed to determine the relationship between  CPEB1  deletion and POI in a Chinese cohort.    Material and methods  Quantitative real-time polymerase chain reaction (qPCR) with primers for exon 4 and exon 11 of  CPEB1  was performed to detect the  CPEB1  deletion in 323 patients with POI and in 300 healthy controls. Subsequent qPCR with primers for each exon of  CPEB1  was performed to precisely localize the deletion locus.    Results  One patient with primary amenorrhea was found to carry a heterozygous deletion of exons 8–12 of the  CPEB1  gene.    Conclusion  Our study is the first to search for  CPEB1  deletions in POI patients using a simple qPCR method, and we show that  CPEB1  deletion is not a common cause for POI in a Chinese cohort.

CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort