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

ConclusionsHearing characteristics of three individuals with three novel pathogenic variants ofKMT2D 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.

Source: Molecular Genetics & Genomic Medicine - November 4, 2023 Category: Genetics & Stem Cells Authors: Zhoushu Zheng, Lu Ding, Meihong Wang, Yinghui Zhang, Yihui Yang, Ming Tang, Jun Xu, Liangjiong Wang, Junhua Wu, Haibo Li Tags: ORIGINAL ARTICLE Source Type: research