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The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread

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

Abstract

Purpose

To investigate the frequency of a founder mutation in NLRP7, L750V, in independent cohorts of Mexican patients with recurrent hydatidiform moles (RHMs).

Methods

Mutation analysis was performed by Sanger sequencing on DNA from 44 unrelated Mexican patients with RHMs and seven molar tissues from seven additional unrelated patients.

Results

L750V was present in homozygous or heterozygous state in 37 (86%) patients and was transmitted on the same haplotype to patients from different states of Mexico. We also identified a second founder mutation, c.2810+2T>G in eight (18.1%) patients, and a novel premature stop-codon mutation W653*.

Conclusion

Our data confirm the strong founder effect for L750V, which appears to be the most common mutation in NLRP7. We also report on six healthy live births to five patients with biallelic NLRP7 mutations, two from spontaneous conceptions and four from donated ovum and discuss our recommendations for DNA testing and genetic counseling.

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Data Availability

All data and materials are available upon request.

Code availability

Not applicable.

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Funding

This work was supported by the Canadian Institute of Health Research MOP130364 and by the Instituto Nacional de Perinatologia, Mexico City.

Author information

Authors and Affiliations

  1. Department of Genetics and Human Genomics, Instituto Nacional de Perinatología, Montes Urales 800 Col. Lomas Virreyes, 11000, Mexico City, Mexico

    Mónica Aguinaga, Irma Monroy, Javier Pérez, Guadalupe Razo & Daniela Medina

  2. Department of Human Genetics, McGill University, Montreal, Quebec, Canada

    Maryam Rezaei & Nawel Mechtouf

  3. Department of Pathology, Instituto Nacional de Perinatología, Mexico City, Mexico

    Elsa Moreno & Yolotzin Valdespino

  4. Académico tiempo completo en la Escuela de Ciencias de la Salud, Universidad del Valle de México, Campus Noroeste, Mexico City, Mexico

    Carolina Galaz

  5. Instituto de Ciencias en Reproducción Humana (Instituto Vida), León, Guanajuato, Mexico

    Raúl Piña

  6. Departments of Human Genetics and Obstetrics and Gynecology, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada

    Rima Slim

Authors
  1. Mónica Aguinaga
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  2. Maryam Rezaei
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  3. Irma Monroy
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  4. Nawel Mechtouf
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  5. Javier Pérez
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  6. Elsa Moreno
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  7. Yolotzin Valdespino
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  8. Carolina Galaz
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  9. Guadalupe Razo
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  10. Daniela Medina
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  11. Raúl Piña
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  12. Rima Slim
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Contributions

All authors contributed to the study conception and design. Material preparation was performed by Maryam Rezaei, Irma Monroy, Mechtouf Nawel, Javier Pérez, Elsa Moreno, Yolotzin Valdespino, Carolina Galaz, and Guadalupe Razo. Data collection was performed by Monica Aguinaga, Carolina Galaz, Daniela Medina D, Raúl Piña, and Rima Slim. Analyses were performed by Maryam Rezaei, Irma Monroy, Mechtouf Nawel, Javier Pérez, and Guadalupe Razo. The first draft of the manuscript was written by Mónica Aguinaga and all authors commented on previous versions of the manuscript. Rima Slim revised the work critically for important intellectual content and approved the version to be published. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Mónica Aguinaga.

Ethics declarations

Ethics approval

The study was approved by the Instituto Nacional de Perinatologia (INPer) Review Board, study number: 212250-3220-11108-01-14 and the McGill Institutional Review Board (IRB# A01-M07-03A). This study was performed in line with the principles of the Declaration of Helsinki.

Consent to participate

All patients provided written consent to participate in our study.

Conflict of interest

The authors declare no competing interests.

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Aguinaga, M., Rezaei, M., Monroy, I. et al. The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread. J Assist Reprod Genet 38, 1879–1886 (2021). https://doi.org/10.1007/s10815-021-02132-1

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  • DOI: https://doi.org/10.1007/s10815-021-02132-1

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