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The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Objective

To investigate the usefulness of preimplantation genetic diagnosis (PGD) based on mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) for a pedigree with X-linked retinitis pigmentosa (XLRP).

Methods

One pathogenic mutation (c.494G > A) of the retinitis pigmentosa GTPase regulator (RPGR) gene was identified in a pedigree affected by XLRP. Then, PGD was carried out for the couple, of which the wife was an XLRP carrier. Three blastocysts were biopsied and then MARSALA was performed by next-generation sequencing (NGS). Prenatal diagnosis was also carried out to confirm the PGD results.

Results

Three blastocysts were all unaffected. Then, one of the embryos was chosen randomly to be transferred, and the pregnancy was acquired successfully. The results of prenatal diagnosis were consistent with the PGD results. The fetus did not carry RPGR mutation (c.494G > A) and had normal chromosome karyotype. As a result, a healthy baby free of XLRP condition was born.

Conclusion

The PGD method based on MARSALA was established and applied to a family with XLRP successfully. MARSALA will be a valid tool, not only for XLRP families but also for families affected with other monogenetic disorders, to prevent transmission of the genetic disease from parents to offspring.

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References

  1. Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006;1:40.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Ali MU, Rahman MSU, Cao J, Yuan PX. Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech. 2017;7(4):251.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Anasagasti A, Irigoyen C, Barandika O, López de Munain A, Ruiz-Ederra J. Current mutation discovery approaches in retinitis pigmentosa. Vis Res. 2012;75:117–29.

    Article  CAS  PubMed  Google Scholar 

  4. Murga-Zamalloa C, Swaroop A, Khanna H. Multiprotein complexes of retinitis pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked retinitis pigmentosa (XLRP). Adv Exp Med Biol. 2010;664:105–14.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Megaw RD, Soares DC, Wright AF. RPGR: its role in photoreceptor physiology, human disease, and future therapies. Exp Eye Res. 2015;138:32–41.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768–70.

    Article  CAS  PubMed  Google Scholar 

  7. Heijligers M, van Montfoort A, Meijer-Hoogeveen M, Broekmans F, Bouman K, Homminga I, et al. Prenatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014. J Assist Reprod Genet. 2018;35:1995–2002. https://doi.org/10.1007/s10815-018-1286-2.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Poulton A, Lewis S, Hui L, Halliday JL. Prenatal and preimplantation genetic diagnosis for single gene disorders: a population-based study from 1977 to 2016. Prenat Diagn. 2018;38:904–10. https://doi.org/10.1002/pd.5352.

    Article  PubMed  Google Scholar 

  9. Yan L, Huang L, Xu L, Huang J, Ma F, Zhu X, et al. Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses. Proc Natl Acad Sci U S A. 2015;112(52):15964–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Ren Y, Zhi X, Zhu X, Huang J, Lian Y, Li R, et al. Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy. J Genet Genomics. 2016;43(9):541–7.

    Article  PubMed  Google Scholar 

  11. Vendrell X, Bautista-Llácer R, Alberola TM, García-Mengual E, Pardo M, Urries A, et al. Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics. J Assist Reprod Genet. 2011;28(9):825–32.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Borgulova I, Putzova M, Soldatova I, Krautova L, Pecnova L, Mika J, et al. Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis. Bratisl Lek Listy. 2015;116(9):542–6.

    CAS  PubMed  Google Scholar 

  13. Dreesen J, Destouni A, Kourlaba G, Degn B, Mette WC, Carvalho F, et al. Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study. Eur J Hum Genet. 2014;22(8):1012–8.

    Article  CAS  PubMed  Google Scholar 

  14. Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod. 2009;24(5):1221–8.

    Article  CAS  PubMed  Google Scholar 

  15. Altarescu G, Zeevi DA, Zeligson S, Perlberg S, Eldar-Geva T, Margalioth EJ, et al. Familial haplotyping and embryo analysis for preimplantation genetic diagnosis (PGD) using DNA microarrays: a proof of principle study. J Assist Reprod Genet. 2013;30(12):1595–603.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Zheng Z, Zhao X, Xu B, Yao N. What should we focus on before preimplantation genetic diagnosis/screening. Arch Med Sci. 2018;14(5):1119–24.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Li G, Niu W, Jin H, Xu J, Song W, Guo Y, et al. Importance of embryo aneuploidy screening in preimplantation genetic diagnosis for monogenic diseases using the karyomap gene chip. Sci Rep. 2018;8(1):3139.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Zhang L, Wei D, Zhu Y, Gao Y, Yan J, Chen ZJ. Rates of live birth after mosaic embryo transfer compared with euploid embryo transfer. J Assist Reprod Genet. 2018;36:165–72. https://doi.org/10.1007/s10815-018-1322-2.

    Article  PubMed  Google Scholar 

  19. Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw MA, et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47(10):651–8.

    Article  PubMed  Google Scholar 

  20. Wu H, Shen X, Huang L, Zeng Y, Gao Y, Shao L, et al. Genotyping single-sperm cells by universal MARSALA enables the acquisition of linkage information for combined pre-implantation genetic diagnosis and genome screening. J Assist Reprod Genet. 2018;35(6):1071–8.

    Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

We thank the family for their participation in this study.

Funding

This work was supported by the Natural Science Foundation of Fujian Province, China (No. 2016J01589, No. 2018J01348).

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Authors and Affiliations

  1. Research Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital, Clinical College of Fujian Medical University/Dongfang Hospital, Xiamen University Medical College, 156 Xi’erhuanbei Road, Fuzhou City, 350025, Fujian Province, People’s Republic of China

    Xinghua Huang, Xiurong Yu, Jian Zeng, Fenghua Lan & Zhihong Wang

  2. Department of Obstetrics & Gynecology, Center of Reproductive Medicine, Fuzhou General Hospital, Clinical College of Fujian Medical University/Dongfang Hospital, Xiamen University Medical College, Fuzhou, 350025, Fujian, China

    Yun Liu, Qiuxiang Huang & Chunli Lin

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  1. Xinghua Huang
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  2. Yun Liu
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  3. Xiurong Yu
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  4. Qiuxiang Huang
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  5. Chunli Lin
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  6. Jian Zeng
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  7. Fenghua Lan
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  8. Zhihong Wang
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Corresponding author

Correspondence to Zhihong Wang.

Ethics declarations

The couple signed informed consent forms for ICSI treatment, PGD, and follow-up. The protocols for this study were evaluated and approved by the Ethics Committee of Fuzhou General Hospital.

Conflict of interest

The authors declare that they have no conflict of interest.

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Cite this article

Huang, X., Liu, Y., Yu, X. et al. The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa. J Assist Reprod Genet 36, 989–994 (2019). https://doi.org/10.1007/s10815-019-01434-9

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  • DOI: https://doi.org/10.1007/s10815-019-01434-9

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