Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.
Eur Arch Otorhinolaryngol
; 280(9): 4057-4063, 2023 Sep.
Article
em En
| MEDLINE
| ID: mdl-36928321
ABSTRACT
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Surdez
/
Perda Auditiva Neurossensorial
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Humans
País como assunto:
Africa
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article