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Journal articles
Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness
Abstract : Mutations in the mesenchymal epithelial transition factor (MET) gene are frequently associated with multiple human cancers but can also lead to human non-syndromic autosomal recessive deafness (DFNB97). In the present study, we identified a novel homozygous missense mutation in the METgene causing a non-syndromic hearing impairment DFNB97 form. Whole-exome sequencing was performed to determine the genetic causes of hearing loss in a Moroccan consanguineous family with an affected daughter. The structural analysis of native and mutant in the SEMA domain of the MET receptor was investigated using a molecular dynamics simulation (MDS) approach. We identified a novel pathogenic homozygous c.948A>G (p.Ile316Met) mutation in the MET gene in one deaf Moroccan young girl carrying a total bilateral non-syndromic hearing impairment. The results of the MDS approach show that an Ile316Met mutation in the SEMA domain leads to protein flexibility loss. This may produce a major impact on the structural conformation of the MET receptor, which also affects the function and binding site of the receptor. This is the first time that a mutation in the MET gene is described in a Moroccan family. Moreover, this study reports the second family in the world associating deafness and mutation in the MET gene.
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219615
Contributor : Crystel Bonnet Connect in order to contact the contributor
Submitted on : Thursday, May 6, 2021 - 3:19:47 PM
Last modification on : Friday, December 3, 2021 - 11:42:56 AM
Contributor : Crystel Bonnet Connect in order to contact the contributor
Submitted on : Thursday, May 6, 2021 - 3:19:47 PM
Last modification on : Friday, December 3, 2021 - 11:42:56 AM