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Insights into the molecular genetics of Kabuki syndrome

Authors Adam M

Received 11 October 2014

Accepted for publication 6 December 2014

Published 23 February 2015 Volume 2015:5 Pages 121—129

DOI https://doi.org/10.2147/AGG.S58588

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 4

Editor who approved publication: Dr John Martignetti

Margaret P Adam

Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA, USA

Abstract: Kabuki syndrome (KS) is a well-recognized multiple congenital anomaly/intellectual disability syndrome characterized by distinctive facial features, congenital heart defects, skeletal anomalies, persistent fingertip pads, postnatal growth retardation, and cognitive impairment to varying degrees. To date, mutations or deletions in two genes (KMT2D and KDM6A) have been identified to cause the majority of cases of KS. Both genes are involved in histone modification and epigenetic regulation of gene expression in early embryogenesis. In this report, we review the clinical features and management of patients with KS, explore the proposed protein interactions and the molecular pathway that may lead to features of KS, and discuss how knowledge of the molecular mechanisms has the potential to inform further disease gene discovery and targeted treatment of the condition.

Keywords: Kabuki syndrome, Kabuki make-up syndrome, KMT2D, KDM6A, histone modification

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