Back to Journals » Advances in Genomics and Genetics » Volume 5

Insights into the molecular genetics of Kabuki syndrome

Authors Adam MP

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

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]

 

Readers of this article also read:

Critical analysis of the potential for microRNA biomarkers in breast cancer management

Graveel CR, Calderone HM, Westerhuis JJ, Winn ME, Sempere LF

Breast Cancer: Targets and Therapy 2015, 7:59-79

Published Date: 23 February 2015

Inertial sensors as measurement tools of elbow range of motion in gerontology

Sacco G, Turpin JM, Marteu A, Sakarovitch C, Teboul B, Boscher L, Brocker P, Robert P, Guerin O

Clinical Interventions in Aging 2015, 10:491-497

Published Date: 23 February 2015

Green synthesis of water-soluble nontoxic polymeric nanocomposites containing silver nanoparticles

Prozorova GF, Pozdnyakov AS, Kuznetsova NP, Korzhova SA, Emel’yanov AI, Ermakova TG, Fadeeva TV, Sosedova LM

International Journal of Nanomedicine 2014, 9:1883-1889

Published Date: 16 April 2014

Methacrylic-based nanogels for the pH-sensitive delivery of 5-Fluorouracil in the colon

Ashwanikumar N, Kumar NA, Nair SA, Kumar GS

International Journal of Nanomedicine 2012, 7:5769-5779

Published Date: 15 November 2012

A novel preparation method for silicone oil nanoemulsions and its application for coating hair with silicone

Hu Z, Liao M, Chen Y, Cai Y, Meng L, Liu Y, Lv N, Liu Z, Yuan W

International Journal of Nanomedicine 2012, 7:5719-5724

Published Date: 12 November 2012

Cross-linked acrylic hydrogel for the controlled delivery of hydrophobic drugs in cancer therapy

Deepa G, Thulasidasan AK, Anto RJ, Pillai JJ, Kumar GS

International Journal of Nanomedicine 2012, 7:4077-4088

Published Date: 27 July 2012

Crystallization after intravitreal ganciclovir injection

Pitipol Choopong, Nattaporn Tesavibul, Nattawut Rodanant

Clinical Ophthalmology 2010, 4:709-711

Published Date: 14 July 2010