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. 2021 Sep;304(3):671-677.
doi: 10.1007/s00404-021-06094-8. Epub 2021 May 13.

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

Li-Sha Peng  1 , Zeng-Ming Li  1 , Ge Chen  1   2 , Fa-Ying Liu  1   2 , Yong Luo  1   2 , Jiu-Bai Guo  1   3 , Guo-Dong Gao  4 , Ying-Hui Deng  5 , Li-Xian Xu  1 , Jiang-Yan Zhou  6   7 , Yang Zou  8   9
Affiliations

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

Li-Sha Peng et al. Arch Gynecol Obstet. 2021 Sep.

Abstract

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.

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

Results: 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.

Conclusion: 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.

Keywords: Chinese; DYSF; Mutation; Ovarian endometriosis; Rare variant.

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References

    1. Yan Q, Huang C, Jiang Y et al (2018) Calpain7 impairs embryo implantation by downregulating β3-integrin expression via degradation of HOXA10. Cell Death Dis 9(3):291 - DOI
    1. Vitale SG, Capriglione S, Peterlunger I et al (2018) The role of oxidative stress and membrane transport systems during endometriosis: a fresh look at a busy corner. Oxid Med Cell Longev 2018:7924021 - DOI
    1. Maia LM, Rocha AL, Del Puerto HL et al (2018) Plasma urocortin-1 as a preoperative marker of endometriosis in symptomatic women. Gynecol Endocrinol 34(3):202–205 - DOI
    1. Borghese B, Zondervan KT, Abrao MS et al (2017) Recent insights on the genetics and epigenetics of endometriosis. Clin Genet 91(2):254–264 - DOI
    1. Barthélémy F, Defour A, Lévy N et al (2018) Muscle cells fix breaches by orchestrating a membrane repair ballet. J Neuromuscul Dis 5(1):21–28 - DOI

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