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 · 2023
Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.
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Salame Malak, Bonnet Crystel, Moctar Ely Cheikh Mohamed, Brahim Selma Mohamed, Dedy Abdallahi, Vetah Ledour Abdel, Veten Fatimetou, Hamed Cheikh Tijani, Petit Christine, Houmeida Ahmed
Аннотация
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.
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.