Related Experiment Video
Updated: Nov 20, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family
Soukaina Elrharchi1,2, Zied Riahi3,4, Sara Salime1,2
1Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Introduction:
Auditory neuropathy is a hearing disorder where outer hair cell function within the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder, which can have either congenital or acquired causes.
Methods:
We found a disease-segregating mutation in the X-linked AIFM1 gene through whole-exome sequencing, encoding the apoptosis-inducing factor mitochondrion-associated 1.
Results:
The impact of the c.1045A>G; p.(Ser349Gly) mutation on the AIFM1 protein was predicted using different bioinformatics tools. The pedigree analysis in the examined family was consistent with X-linked dominant inheritance.
Discussion/Conclusion:
To our knowledge, this is the first study that identifies a mutation in the AIFM1 gene in Moroccan patients suffering from X-linked auditory neuropathy.
More Related Videos
Related Concept Videos
02:59Animal Mitochondrial Genetics
01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
01:31Translation
Translation Produces the Building Blocks of Life
Proteins are...
01:30Point and Frameshift Mutations
01:43Incomplete Dominance