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

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.

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.

One patient with primary amenorrhea was found to carry a heterozygous deletion of exons 8-12 of the CPEB1 gene.

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.