Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.

Zhoushu ZhengLu DingMeihong WangYinghui ZhangYihui YangMing TangJun XuLiangjiong WangJunhua WuHai-Bo Li

Published in: Molecular genetics & genomic medicine (2023)

Hearing characteristics of three individuals with three novel pathogenic variants of KMT2D range from mild to profound fluctuating hearing loss with mild to moderate SNHL. HRCT scans showed that all three individuals had anatomical middle and inner ear abnormalities. KS 1 patients must get clinical therapy for OME, frequent auditory monitoring, and prompt intervention.

Keyphrases

hearing loss
end stage renal disease
copy number
ejection fraction
newly diagnosed
randomized controlled trial
prognostic factors
working memory
intellectual disability
genome wide
drug induced