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

Autor: Salame M; Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, UNA-FST, Nouakchott, Mauritania., Bonnet C; Institut de l'AuditionInstitut Pasteur, Inserm, Paris, France., Moctar ECM; Division of Otolaryngology, Department of Surgery, University of California, San Diego, 9500 Gilman Drive, Mail Code 0666, La Jolla, CA, 92093, USA., Brahim SM; Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, UNA-FST, Nouakchott, Mauritania.; Centre National d'Oncologie (CNO), Unité de Recherche et d'Enseignement, Nouakchott, Mauritania., Dedy A; Centre Hospitalier National de Nouakchott (CHN), Nouakchott, Mauritania., Vetah LA; Centre Hospitalier National de Nouakchott (CHN), Nouakchott, Mauritania., Veten F; Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, UNA-FST, Nouakchott, Mauritania., Hamed CT; Centre d'Hépato-virologie, Nouakchott, Mauritania., Petit C; Institut de l'AuditionInstitut Pasteur, Inserm, Paris, France.; Collège de France, Paris, France., Houmeida A; Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, UNA-FST, Nouakchott, Mauritania. ahmedhoumeida@gmail.com.
Jazyk: angličtina
Zdroj: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2023 Sep; Vol. 280 (9), pp. 4057-4063. Date of Electronic Publication: 2023 Mar 16.
DOI: 10.1007/s00405-023-07907-z
Abstrakt: 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.
(© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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