Article
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Molecular medicine reports - 1 Jun 2018
Lee Cha Gon, Jang Jahyeon, Jin Hyun-Seok
Abstract excerpt
The ACTG1 gene encodes the cytoskeletal protein γ-actin, which functions in non‑muscle cells and is abundant in the auditory hair cells of the cochlea. Autosomal dominant missense mutations in ACTG1 are associated with DFNA20/26, a disorder that is typically characterized by post‑lingual progressive hearing loss. To date, 17 missense mutations in ACTG1 have been reported in 20 families with DFNA20/26. The present...
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