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

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.

Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss.

Origins of all hearing impairment forms may be divided into genetic mutations and acquired influence. Both carry damage to the inner ear structure resulting in a mild to profound dysfunction of the auditory system. The purpose of this study was to assess the different etiologies of deafness in two reference centers for hearing-impaired children in Nouakchott/Mauritania.