ArticleMolecular biology reports2022
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
Article in Molecular biology reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
5 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- Genetics of Waardenburg Syndrome in Africa: A Systematic Review.International journal of molecular sciences · 2025Pooled it
- Moroccan genome project: genomic insight into a North African population.Communications biology · 2025Article
- Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants inFrontiers in pediatrics · 2025Article
- G protein-coupled receptors in cochlea: Potential therapeutic targets for hearing loss.Frontiers in molecular neuroscience · 2022Review
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Authors and funding
9 authors.
Funding
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Abstract
backgroundDeafness 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).
methodsA 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
resultsThe 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.
conclusionsWe 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.
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