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
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...
March 16, 2023: European Archives of Oto-rhino-laryngology