Genetic Analysis of CHD7 Mutations in Deaf Patients with CHARGE Syndrome
Author Information
Author(s): Song Mee Hyun, Cho Hyun-Ju, Lee Hee Keun, Kwon Tae Jun, Lee Won-Sang, Oh Sanghee, Bok Jinwoong, Choi Jae Young, Kim Un-Kyung
Primary Institution: Kwandong University College of Medicine
Hypothesis
The study aims to analyze the genotypic spectrum of CHD7 mutations in deaf patients with CHARGE syndrome and investigate clinical considerations for auditory rehabilitation.
Conclusion
Genetic analysis of the CHD7 gene is crucial for patients with semicircular canal aplasia, and cochlear implantation is recommended for those with favorable prognostic factors.
Supporting Evidence
- Eight of the nine patients had alterations in the CHD7 gene.
- Five of the nine patients showed favorable outcomes after cochlear implantation.
- Clinical features were analyzed with a focus on auditory rehabilitation.
Takeaway
The study looked at deaf kids with a condition called CHARGE syndrome to see if they had changes in a specific gene. It found that many did, and some kids did better with hearing devices than others.
Methodology
The study included nine Korean patients with CHARGE syndrome, analyzing all 38 exons of the CHD7 gene through direct sequencing and assessing clinical features and outcomes of auditory rehabilitation.
Limitations
The study's sample size is small, and the findings may not be generalizable to all populations.
Participant Demographics
The participants included 6 males and 3 females, aged between 14 months and 20 years.
Digital Object Identifier (DOI)
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