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Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness

  • Otology
  • Published:
European Archives of Oto-Rhino-Laryngology Aims and scope Submit manuscript

Abstract

Purpose

Although recessive mutations in GJB2 are the common genetic etiology of sensorineural hearing impairment (SNHI), variants in LRTOMT gene were also identified, mostly in Middle East and North African populations.

Methods

Using Sanger sequencing we screened the exon 7 of LRTOMT in a cohort of 128 unrelated Mauritanian children with congenital deafness.

Results

Only one biallelic missense mutation, predicted as pathogenic (c.179 T > C;p.Leu60Pro) was found at homozygous state in four families. This variant, not reported before, showed a deleterious effect by SIFT (score: 0.01) and a disease-causing effect by Mutation Taster (prob: 1). Exploration of the encoded protein 3D structure revealed a disruption from an organized α helix (in the normal protein structure) into a random conformation. Early fitting of a cochlear implant seemed to improve the audition ability of the mutation carrier.

Conclusion

Further screening using a panel of deafness genes may expose other variants underlying hearing impairment in our population.

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Availability of data and materials

The datasets on variants generated during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

We thank all the families for their participation to the study. This work was supported by Fondation pour l’Audition (FPA-IDA05) and the ANRSI-Mauritania.

Funding

The authors declare that no funds or grants were received during the preparation of this manuscript.

Author information

Authors and Affiliations

  1. Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, UNA-FST, Nouakchott, Mauritania

    Malak Salame, Selma Mohamed Brahim, Fatimetou Veten & Ahmed Houmeida

  2. Institut de l’AuditionInstitut Pasteur, Inserm, Paris, France

    Crystel Bonnet & Christine Petit

  3. Division of Otolaryngology, Department of Surgery, University of California, San Diego, 9500 Gilman Drive, Mail Code 0666, La Jolla, CA, 92093, USA

    Ely Cheikh Mohamed Moctar

  4. Centre National d’Oncologie (CNO), Unité de Recherche et d’Enseignement, Nouakchott, Mauritania

    Selma Mohamed Brahim

  5. Centre d’Hépato-virologie, Nouakchott, Mauritania

    Cheikh Tijani Hamed

  6. Collège de France, Paris, France

    Christine Petit

  7. Centre Hospitalier National de Nouakchott (CHN), Nouakchott, Mauritania

    Abdallahi Dedy & Ledour Abdel Vetah

Authors
  1. Malak Salame
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  2. Crystel Bonnet
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  3. Ely Cheikh Mohamed Moctar
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Contributions

MS, ECM, SMB, CTH and VT collected and organized patients’ files. AD and LAV examined patients and analyzed clinical data. CB, CP and AH contributed in paper conception and writing of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Ahmed Houmeida.

Ethics declarations

Competing interests

The authors declare that they have no competing interests.

Ethics approval and consent to participate

Research in this study has been performed in accordance with the Declaration of Helsinki and was approved by an appropriate ethics committee: the Ethics Committee of the University of Nouakchott, Mauritania (ref. no002/2020/CE/UNA). We confirm that all methods were performed in accordance with the relevant guidelines and regulations.

Consent for publication

Informed consent was obtained from all study participants. The informed consent of all patients was also obtained for the data publication.

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Salame, M., Bonnet, C., Moctar, E.C.M. et al. Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness. Eur Arch Otorhinolaryngol 280, 4057–4063 (2023). https://doi.org/10.1007/s00405-023-07907-z

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