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Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

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Abstract

Background

Deafness is the most prevalent human sensorineural defect. It may occur as a result of an external auditory canal involvement, or a deficiency in the sound conduction mechanism, or an impairment of the cochlea, the cochlear nerve or central auditory perception. The genetic causes are the most common, as approximately 70% of hearing disorders are of hereditary origin, divided into two groups, syndromic (associated with other symptoms) and no syndromic (isolated deafness).

Methods

A whole exome sequencing was performed to identify the genetic cause of hearing loss in six Moroccan families and Sanger sequencing was used to validate mutations in these genes.

The results

The results of four out of the six families revealed four genetic variants in the genes GJB2, COL4A3, ATP6V1B1 and EDNRB responsible for non-syndromic and syndromic hearing loss. Multiple Bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations.

Conclusions

We identified in Moroccan deaf patients four homozygous mutations. These results show the importance of whole exome sequencing to identify pathogenic mutations in heterogeneous disorders with multiple genes responsible.

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Availability of data and material

Data will be provided by the authors upon request.

Code availability

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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), we also thanks Dr. Snoussi Khalid for the clinical auditory investigation.

Funding

No funds, grants, or other support was received.

Author information

Authors and Affiliations

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

    Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hassan Rouba & Adbelhamid Barakat

  2. Laboratoire de Biochimie, Environnement et Agroalimentaire, Faculty of Science and Techniques of Mohammedia, Hassan II University of Casablanca, Casablanca, Morocco

    Imane AitRaise & Houria Abdelghaffar

  3. Laboratoire de physiopathologie et génétique moléculaire, Faculté des Sciences Ben M’sik, Université Hassan II, Casablanca, Morocco

    Amale Bousfiha

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

    Hicham Charoute

  5. Unité de Génétique et Physiologie de l’Audition, Institut Pasteur, 75015, Paris, France

    Crystel Bonnet & Christine Petit

  6. Institut de l’Audition, 75012, Paris, France

    Christine Petit

  7. Collège de France, 75005, Paris, France

    Christine Petit

Authors
  1. Imane AitRaise
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  2. Ghita Amalou
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  3. Amale Bousfiha
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  4. Hicham Charoute
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  5. Hassan Rouba
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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. Adbelhamid Barakat
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Contributions

Conceptualization: [Houria Abdelghaffar], [Abdelhamid Barakat] and [Hicham Charoute] ; Formal analysis: [Imane Ait Raise], [Ghita Amalou] and [Amale Bousfiha] ; Funding acquisition: [Abdelhamid Barakat], [Hassan Rouba]; Investigation: [Imane Ait Raise], [Ghita Amalou]; Methodology: [Imane Ait Raise], [Amale Bousfiha] and [Crystel Bonnet] ; Resources: [Christine Petit] and [Abdelhamid Barakat]; Software: [Imane Ait Raise], [Hicham Charoute]; Writing—original draft: [Imane Ait Raise], [Ghita Amalou]; Writing—review & editing: [Houria Abdelghaffar], [Crystel Bonnet], and [Abdelhamid Barakat].

Corresponding author

Correspondence to Adbelhamid Barakat.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethics approval

The genetic study was approved by the medical ethics committee of the Morocco Pasteur Institute.

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Informed consent was obtained from legal guardians.

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Patients signed informed consent regarding publishing their data.

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AitRaise, I., Amalou, G., Bousfiha, A. et al. Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco. Mol Biol Rep 49, 3949–3954 (2022). https://doi.org/10.1007/s11033-022-07245-z

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  • DOI: https://doi.org/10.1007/s11033-022-07245-z

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