ArticleMolecular medicine reports2018
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Article in Molecular medicine reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 15 citations in OpenAlex.
- ACTG1 mediates cisplatin resistance in NSCLC through induction of mitochondrial fragmentation.Apoptosis : an international journal on programmed cell death · 2025Article
- Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.Journal of clinical medicine · 2024Review
- Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Outcomes of cochlear implantation in 75 patients with auditory neuropathy.Frontiers in neuroscience · 2023Article
- Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss.Human genetics · 2022Article
- DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.Audiology research · 2021Article
- When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.Diagnostics (Basel, Switzerland) · 2021Article
- The remodelling of actin composition as a hallmark of cancer.Translational oncology · 2021Review
- Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities.Frontiers in genetics · 2020Review
- Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.Frontiers in genetics · 2018Article
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 study described a small family with autosomal dominant nonsyndromic hearing loss. A novel heterozygous missense mutation, c.94C>T (p.Pro32Ser), in ACTG1 was identified using the TruSight One sequencing panel. Notably, congenital hearing loss in our proband was identified by newborn hearing screening at birth. In silico predictions of protein structure and function indicate that the p.Pro32Ser mutation may result in conformational changes in γ‑actin. The present study expands the understanding of the phenotypic effects of heterozygous missense mutations in the ACTG1 gene. In specific, the present results emphasize that mutations in ACTG1 result in a diverse spectrum of onset ages, including congenital in addition to post‑lingual onset.
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