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Novel pathogenic WHRN variant causing hearing loss in a moroccan family

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Abstract

Objectives

The most prevalent sensory disease in humans is deafness. A variety of genes have been linked to hearing loss, which can either be isolated (non-syndromic) or associated with lesions in other organs (syndromic). It has been discovered that WHRN variants are responsible for non-syndromic hearing loss and Usher syndrome type II.

Methods and results

Exome sequencing in a consanguineous Moroccan patient with severe hearing loss identified a single homozygous mutation c.619G > T; p.Ala207Ser in WHRN, encoding a cytoskeletal scaffold protein that binds membrane protein complexes to the cytoskeleton in ocular photoreceptors and ear hair cell stereocilia. Bioinformatics methods and molecular dynamic modeling were able to predict the pathogenic implications of this variation.

Conclusion

We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein’s structure.

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Data Availability

Data will be provided by the authors upon request.

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Acknowledgements

The authors are indebted to the families who contributed to this study. This project was supported by the Institut Pasteur du Maroc (IPM).

Funding

No funds, grants, or other support was received.

Author information

Author notes

  1. Imane AitRaise and Ghita Amalou contributed equally to this work.

Authors and Affiliations

  1. Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco

    Imane AitRaise, Ghita Amalou, Salaheddine Redouane & Abdelhamid Barakat

  2. Laboratory of Biochemistry, Environment and Agri-food, Faculty of Science and Techniques of Mohammedia, Hassan II University of Casablanca, Casablanca, Morocco

    Imane AitRaise & Houria Abdelghaffar

  3. Research unit of epidemiology, biostatistics and bioinformatics, Institut Pasteur du Maroc, Casablanca, Morocco

    Hicham Charoute

  4. Audition center, Cheikh Khalifa International University Hospital, Casablanca, Morocco

    Khalid Snoussi

  5. Institut Pasteur, Université Paris Cité, Inserm, Institut de l’Audition, Paris, F-75012, France

    Crystel Bonnet & Christine Petit

  6. Collège de France, Paris, F-75005, France

    Christine Petit

Authors
  1. Imane AitRaise
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  2. Ghita Amalou
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  3. Salaheddine Redouane
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  4. Hicham Charoute
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  5. Khalid Snoussi
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  6. Houria Abdelghaffar
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  7. Crystel Bonnet
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  8. Christine Petit
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  9. Abdelhamid Barakat
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Contributions

All authors reviewed the manuscript.

Corresponding author

Correspondence to Abdelhamid Barakat.

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Competing interests

The authors declare no competing interests.

Ethics approval

The genetic study was approved by the ethics committee for the biomedical research of Rabat (N° 09/19).

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AitRaise, I., Amalou, G., Redouane, S. et al. Novel pathogenic WHRN variant causing hearing loss in a moroccan family. Mol Biol Rep 50, 10663–10669 (2023). https://doi.org/10.1007/s11033-023-08901-8

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  • DOI: https://doi.org/10.1007/s11033-023-08901-8

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