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.