A Novel Candidate Gene <i>MACF1</i> is Associated with Autosomal Dominant Non-syndromic Hearing Loss in an Iranian Family.

ABSTRACT: Cytoskeletal dynamics, the interplay of actin, microtubules, and septins, is a highly coordinated and tightly regulated process. Defects in the proteins involved can result in a wide range of cellular consequences. Hearing loss is the most common sensory defect and exhibits extraordinary genetic and phenotypic heterogeneity. Currently, there are more than 170 genes casually linked to non-syndromic hearing loss (NSHL), of which more than 60 are associated with autosomal dominant inheritance. Here, we add to this growing number by implicating MACF1 (OMIM # 608271), as a novel candidate gene for autosomal dominant non-syndromic hearing loss (ADNSHL). MACF1's cytoskeleton integrator function and hair cell expression pattern lead one to believe that it is a necessary protein for hair cel

SUBMITTER: Bazazzadegan N 

PROVIDER: S-EPMC11862395 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature