Objective: To describe the audiological profile, clinical features and briefly summarize the speech and language development of a child with Kabuki syndrome (KS). KS is a rare malformation syndrome that usually presents with mental retardation and multiple congenital anomalies including ear diseases and hearing loss. Methods: Design: Case report Setting: Tertiary Public University Hospital Subject: One patient Results: A five-year-old female diagnosed with KS at age three presented with moderate to severe conductive hearing loss in the right ear with a drop at the high frequencies and moderate to severe conductive sloping hearing loss in the left ear. She also had fluctuating tympanometric findings. She was fit with binaural hearing aids. Conclusion Ear diseases and hearing loss should immediately be considered in patients diagnosed with KS. A comprehensive audiological and otolaryngological evaluation should also be performed when presented with a KS case.
Hearing Loss

Objective: Recent advances in epigenetic studies continue to reveal novel mechanisms of gene regulation and control, however little is known on the role of epigenetics in sensorineural hearing loss (SNHL) in humans. We aimed to investigate the methylation patterns of two regions, one in RB1 and another in GJB2 in Filipino patients with SNHL compared to hearing control individuals. Methods: We investigated an RB1 promoter region that was previously identified as differentially methylated in children with SNHL and lead exposure. Additionally, we investigated a sequence in an enhancer-like region within GJB2 that contains four CpGs in close proximity. Bisulfite conversion was performed on salivary DNA samples from 15 children with SNHL and 45 unrelated ethnically-matched individuals. We then performed methylation-specific real-time PCR analysis (qMSP) using TaqMan® probes to determine percentage methylation of the two regions. Results: Using qMSP, both our cases and controls had zero methylation at the targeted GJB2 and RB1 regions. Conclusion Our study showed no changes in methylation at the selected CpG regions in RB1 and GJB2 in the two comparison groups with or without SNHL. This may be due to a lack of environmental exposures to these target regions. Other epigenetic marks may be present around these regions as well as those of other HL-associated genes.
Hearing Loss ; Methylation