Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
February-2022 Volume 25 Issue 2

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
February-2022 Volume 25 Issue 2

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency

  • Authors:
    • Libin Mei
    • Lingling Huang
    • Yanru Huang
    • Xiaoling Wu
    • Huang He
    • Xuemei He
    • Zhiying Su
    • Ping Li
  • View Affiliations / Copyright

    Affiliations: Department of Reproductive Medicine, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian 361003, P.R. China
  • Article Number: 45
    |
    Published online on: December 8, 2021
       https://doi.org/10.3892/mmr.2021.12561
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



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 PSMC3IP. 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 PSMC3IP in the etiology of POI and provide a novel insight into elucidating the mechanisms of female infertility.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

View References

1 

Nelson LM: Clinical practice. Primary ovarian insufficiency. N Engl J Med. 360:606–614. 2009. View Article : Google Scholar : PubMed/NCBI

2 

Tucker EJ, Grover SR, Bachelot A, Touraine P and Sinclair AH: Premature ovarian insufficiency: New perspectives on genetic cause and phenotypic spectrum. Endocr Rev. 37:609–635. 2016. View Article : Google Scholar : PubMed/NCBI

3 

Gowri V, Al Shukri M, Al-Farsi FA, Al-Busaidi NA, Dennison D, Al Kindi S, Daar S, Al Farsi K and Pathare AV: Aetiological profile of women presenting with premature ovarian failure to a single tertiary care center in Oman. Post Reprod Health. 21:63–68. 2015. View Article : Google Scholar : PubMed/NCBI

4 

European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI, ; Webber L, Davies M, Anderson R, Bartlett J, Braat D, Cartwright B, Cifkova R, de Muinck Keizer-Schrama S, Hogervorst E, et al: ESHRE guideline: management of women with premature ovarian insufficiency. Hum Reprod. 31:926–937. 2016. View Article : Google Scholar : PubMed/NCBI

5 

Jiao X, Ke H, Qin Y and Chen ZJ: Molecular genetics of premature ovarian insufficiency. Trends Endocrinol Metab. 29:795–807. 2018. View Article : Google Scholar : PubMed/NCBI

6 

Rossetti R, Ferrari I, Bonomi M and Persani L: Genetics of primary ovarian insufficiency. Clin Genet. 91:183–198. 2017. View Article : Google Scholar : PubMed/NCBI

7 

Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, Heddar A, Jarzabek K, Laisk-Podar T, Salumets A, et al: Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency. Trends Endocrinol Metab. 29:400–419. 2018. View Article : Google Scholar : PubMed/NCBI

8 

Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, et al: XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcriptio. Am J Hum Genet. 89:572–579. 2011. View Article : Google Scholar : PubMed/NCBI

9 

Sansam CL and Pezza RJ: Connecting by breaking and repairing: Mechanisms of DNA strand exchange in meiotic recombination. FEBS J. 282:2444–2457. 2015. View Article : Google Scholar : PubMed/NCBI

10 

Zhao W and Sung P: Significance of ligand interactions involving Hop2-Mnd1 and the RAD51 and DMC1 recombinases in homologous DNA repair and XX ovarian dysgenesis. Nucleic Acids Res. 43:4055–4066. 2015. View Article : Google Scholar : PubMed/NCBI

11 

Petukhova GV, Romanienko PJ and Camerini-Otero RD: The Hop2 protein has a direct role in promoting interhomolog interactions during mouse meiosis. Dev Cell. 5:927–936. 2003. View Article : Google Scholar : PubMed/NCBI

12 

Biswas L, Tyc K, El Yakoubi W, Morgan K, Xing J and Schindler K: Meiosis interrupted: The genetics of female infertility via meiotic failure. Reproduction. 161:R13–R35. 2021. View Article : Google Scholar : PubMed/NCBI

13 

Al-Agha AE, Ahmed IA, Nuebel E, Moriwaki M, Moore B, Peacock KA, Mosbruger T, Neklason DW, Jorde LB, Yandell M and Welt CK: Primary ovarian insufficiency and azoospermia in carriers of a homozygous PSMC3IP stop gain mutation. J Clin Endocrinol Metab. 103:555–563. 2018. View Article : Google Scholar : PubMed/NCBI

14 

Yang X, Touraine P, Desai S, Humphreys G, Jiang H, Yatsenko A and Rajkovic A: Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency. J Assist Reprod Genet. 36:39–45. 2019. View Article : Google Scholar : PubMed/NCBI

15 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 17:405–424. 2015. View Article : Google Scholar : PubMed/NCBI

16 

Schubert S, Ripperger T, Rood M, Petkidis A, Hofmann W, Frye-Boukhriss H, Tauscher M, Auber B, Hille-Betz U, Illig T, et al: GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families. Genes Cancer. 8:472–483. 2017. View Article : Google Scholar : PubMed/NCBI

17 

Achyut BR, Zhang H, Angara K, Mivechi NF, Arbab AS and Ko L: Oncoprotein GT198 vaccination delays tumor growth in MMTV-PyMT mice. Cancer Lett. 476:57–66. 2020. View Article : Google Scholar : PubMed/NCBI

18 

Capdevila-Busquets E, Badiola N, Arroyo R, Alcalde V, Soler-López M and Aloy P: Breast cancer genes PSMC3IP and EPSTI1 play a role in apoptosis regulation. PLoS One. 10:e01153522015. View Article : Google Scholar : PubMed/NCBI

19 

Nathansen J, Lukiyanchuk V, Hein L, Stolte MI, Borgmann K, Löck S, Kurth I, Baumann M, Krause M, Linge A, et al: Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L. Oncogene. 40:4214–4228. 2021. View Article : Google Scholar : PubMed/NCBI

20 

Pang J, Gao J, Zhang L, Mivechi NF and Ko L: GT198 is a target of oncology drugs and anticancer herbs. Front Oral Health. 2:6794602020. View Article : Google Scholar : PubMed/NCBI

21 

Lin T, Zhang Y, Zhang T, Steckler RA and Yang X: Hop2 interacts with the transcription factor CEBPα and suppresses adipocyte differentiation. J Biol Chem. 297:1012642021. View Article : Google Scholar : PubMed/NCBI

22 

Zhao W, Saro D, Hammel M, Kwon Y, Xu Y, Rambo RP, Williams GJ, Chi P, Lu L, Pezza RJ, et al: Mechanistic insights into the role of Hop2-Mnd1 in meiotic homologous DNA pairing. Nucleic Acids Res. 42:906–917. 2014. View Article : Google Scholar : PubMed/NCBI

23 

Norling A, Hirschberg AL, Karlsson L, Rodriguez-Wallberg KA, Iwarsson E, Wedell A and Barbaro M: No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency. Sex Dev. 8:146–150. 2014. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Mei L, Huang L, Huang Y, Wu X, He H, He X, Su Z and Li P: Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency. Mol Med Rep 25: 45, 2022.
APA
Mei, L., Huang, L., Huang, Y., Wu, X., He, H., He, X. ... Li, P. (2022). Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency. Molecular Medicine Reports, 25, 45. https://doi.org/10.3892/mmr.2021.12561
MLA
Mei, L., Huang, L., Huang, Y., Wu, X., He, H., He, X., Su, Z., Li, P."Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency". Molecular Medicine Reports 25.2 (2022): 45.
Chicago
Mei, L., Huang, L., Huang, Y., Wu, X., He, H., He, X., Su, Z., Li, P."Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency". Molecular Medicine Reports 25, no. 2 (2022): 45. https://doi.org/10.3892/mmr.2021.12561
Copy and paste a formatted citation
x
Spandidos Publications style
Mei L, Huang L, Huang Y, Wu X, He H, He X, Su Z and Li P: Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency. Mol Med Rep 25: 45, 2022.
APA
Mei, L., Huang, L., Huang, Y., Wu, X., He, H., He, X. ... Li, P. (2022). Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency. Molecular Medicine Reports, 25, 45. https://doi.org/10.3892/mmr.2021.12561
MLA
Mei, L., Huang, L., Huang, Y., Wu, X., He, H., He, X., Su, Z., Li, P."Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency". Molecular Medicine Reports 25.2 (2022): 45.
Chicago
Mei, L., Huang, L., Huang, Y., Wu, X., He, H., He, X., Su, Z., Li, P."Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency". Molecular Medicine Reports 25, no. 2 (2022): 45. https://doi.org/10.3892/mmr.2021.12561
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team