Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis

Purpose Endometriosis is a common chronic gynecological disease greatly affecting women health. Prior studies have implicated that dysferlin (DYSF) aberration might be involved in the pathogenesis of ovarian endometriosis. In the present study, we explore the potential presence of DYSF mutations in a total of 152 Han Chinese samples with ovarian endometriosis.

We analyze the potential presence of DYSF mutations by direct DNA sequencing.

A total of seven rare variants/mutations in the DYSF gene in 10 out of 152 samples (6.6%) were identified, including 5 rare variants and 2 novel mutations. For the 5 rare variants, p.R334W and p.G941S existed in 2 samples, p.R865W, p.R1173H and p.G1531S existed in single sample, respectively; for the two novel mutations, p.W352* and p.I1642F, they were identified in three patients. These rare variants/mutations were absent or existed at extremely low frequency either in our 1006 local control women without endometriosis, or in the China Metabolic Analytics Project (ChinaMAP) and Genome Aggregation Database (gnomAD) databases. Evolutionary conservation analysis results suggested that all of these rare variants/mutations were evolutionarily conserved among 11 vertebrate species from Human to Fox. Furthermore, in silico analysis results suggested these rare variants/mutations were disease-causing. Nevertheless, we find no significant association between DYSF rare variants/mutations and the clinical features in our patients. To our knowledge, this is the first report revealing frequent DYSF mutations in ovarian endometriosis.

We identified a high frequency of DYSF rare variants/mutations in ovarian endometriosis for the first time. This study suggests a new correlation between DYSF rare variants/mutations and ovarian endometriosis, implicating DYSF rare variants/mutations might be positively involved in the pathogenesis of ovarian endometriosis. Similar content being viewed by others

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We thank the sample donors who involved in the present study. Funding This study was supported by China Postdoctoral Science Foundation (No. 2018M642594), Jiangxi Province Postdoctoral Science Foundation (2018KY21), and the Science Foundation of Jiangxi Province (No. 20181BBG70018). Author information Authors and Affiliations Contributions LS Peng: investigation; ZM Li: sample collection; G Chen: investigation; FY Liu: investigation; Y Luo: data analysis; JB Guo: sample collection; GD Gao: data analysis; YH Deng: sample collection; LX Xu: investigation; JY Zhou: writing, and editing; Y Zou: Methodology, manuscript revision. Corresponding authors Ethics declarations Conflict of interest None. Ethics approval The Institutional Ethics Committee of Jiangxi Provincial Maternal and Child Health Hospital approved this study. Additional information Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Li-Sha Peng and Zeng-Ming Li are the co-first authors. Rights and permissions About this article Cite this article Peng, LS., Li, ZM., Chen, G. et al. Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis. Arch Gynecol Obstet 304, 671–677 (2021). https://doi.org/10.1007/s00404-021-06094-8 Received: Accepted: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s00404-021-06094-8