Mutational and functional analyses of Kabuki syndrome genes demonstrate critical roles in craniofacial, heart and brain development
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Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by distinctive facial features, global developmental delay, intellectual disability, and cardiovascular and musculoskeletal abnormalities. Mutations in KMT2D have been identified in a majority of KS patients, and mutations in KDM6A have been identified as a rare cause of KS. Fifty-seven individuals clinically diagnosed with KS were analyzed for mutations in KMT2D and KDM6A, 17 by the group that implicated KMT2D and forty by ourselves. Putative pathogenic mutations were detected in KMT2D in 27 subjects and KDM6A ...