Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness
Résumé
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.
Origine : Fichiers produits par l'(les) auteur(s)
Licence : CC BY NC - Paternité - Pas d'utilisation commerciale
Licence : CC BY NC - Paternité - Pas d'utilisation commerciale
