Extreme Variability in Hearing Loss Related to ACTG1 Gene
Author Information
Author(s): Bernardi Maria T., Ramzan Memoona, Calderon Laura, Salvatore Franco, De Rosa Maria Agustina, Bivona Stephanie, Armando Romina, Vazquez Natalia, Azcoiti Maria Esnaola, Marti Marcelo A., Arberas Claudia, Ropelato Maria Gabriela, Olha Silvina, Lam Byron L., Telischi Fred F., Tekin Mustafa, Walz Katherina
Primary Institution: Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET Buenos Aires
Hypothesis
Can different variants in the ACTG1 gene lead to a wide range of clinical presentations in hearing loss?
Conclusion
The study found that two patients with ACTG1 variants exhibited severe hearing loss but had different clinical features, highlighting the variability of ACTG1-related disorders.
Supporting Evidence
- Both patients had severe hearing loss as a common feature.
- Patient 1 exhibited developmental delay and intellectual disability.
- Patient 2 had a history of retinal degeneration.
- ACTG1 variants were identified in both patients through exome sequencing.
- Different clinical presentations were observed despite the same gene mutation.
Takeaway
This study shows that two people with the same gene mutation can have very different symptoms, even though they both have hearing loss.
Methodology
The study involved genetic analysis of two patients with hearing loss, including exome sequencing to identify variants in the ACTG1 gene.
Limitations
The study is limited by the small sample size and lack of parental genetic data for one patient.
Participant Demographics
Two patients: one male child aged 9 and one female adult aged 33.
Digital Object Identifier (DOI)
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