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- Title
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
- Authors
AitRaise, Imane; Amalou, Ghita; Bousfiha, Amale; Charoute, Hicham; Rouba, Hassan; Abdelghaffar, Houria; Bonnet, Crystel; Petit, Christine; Barakat, Adbelhamid
- Abstract
Background: Deafness is the most prevalent human sensorineural defect. It may occur as a result of an external auditory canal involvement, or a deficiency in the sound conduction mechanism, or an impairment of the cochlea, the cochlear nerve or central auditory perception. The genetic causes are the most common, as approximately 70% of hearing disorders are of hereditary origin, divided into two groups, syndromic (associated with other symptoms) and no syndromic (isolated deafness). Methods: A whole exome sequencing was performed to identify the genetic cause of hearing loss in six Moroccan families and Sanger sequencing was used to validate mutations in these genes. The results: The results of four out of the six families revealed four genetic variants in the genes GJB2, COL4A3, ATP6V1B1 and EDNRB responsible for non-syndromic and syndromic hearing loss. Multiple Bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. Conclusions: We identified in Moroccan deaf patients four homozygous mutations. These results show the importance of whole exome sequencing to identify pathogenic mutations in heterogeneous disorders with multiple genes responsible.
- Subjects
MOROCCO; EAR canal; ACOUSTIC nerve; DEAF children; AUDITORY perception; GENETIC variation; COCHLEA physiology; HEARING disorders
- Publication
Molecular Biology Reports, 2022, Vol 49, Issue 5, p3949
- ISSN
0301-4851
- Publication type
Article
- DOI
10.1007/s11033-022-07245-z