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European Archives of Oto-Rhino-Laryngology

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16-03-2023 | Cochlear Implant | Otology

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

Authors: Malak Salame, Crystel Bonnet, Ely Cheikh Mohamed Moctar, Selma Mohamed Brahim, Abdallahi Dedy, Ledour Abdel Vetah, Fatimetou Veten, Cheikh Tijani Hamed, Christine Petit, Ahmed Houmeida

Published in: European Archives of Oto-Rhino-Laryngology | Issue 9/2023

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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Title: Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness
Authors: Malak Salame
Crystel Bonnet
Ely Cheikh Mohamed Moctar
Selma Mohamed Brahim
Abdallahi Dedy
Ledour Abdel Vetah
Fatimetou Veten
Cheikh Tijani Hamed
Christine Petit
Ahmed Houmeida
Publication date: 16-03-2023
Publisher: Springer Berlin Heidelberg
Keyword: Cochlear Implant
Published in: European Archives of Oto-Rhino-Laryngology / Issue 9/2023
Print ISSN: 0937-4477
Electronic ISSN: 1434-4726
DOI: https://doi.org/10.1007/s00405-023-07907-z

2024 ASCO Annual Meeting

Springer Medicine

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

Abstract

Purpose

Methods

Results

Conclusion

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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