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Int. J. Mol. Sci. 2018, 19(1), 82;

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Division of Medical Genetics, IRCSS Casa Sollievo della Sofferenza Hospital, viale Cappuccini, 71013 San Giovanni Rotondo, Italy
PhD Program in Experimental and Regenerative Medicine, Faculty of Medicine, University of Foggia, 71122 Foggia, Italy
Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Sassari, 07100 Sassari, Italy
Neonatal Intensive Care Unit, Maggiore Hospital, 40133 Bologna, Italy
Child Neuropsychiatry Unit, UO Casalecchio Porretta Bologna District, 40124 Bologna, Italy
Medical Genetic Unit, Bambino Gesù Children’s, IRCCS, 00165 Rome, Italy
Scientific Directorate, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Author to whom correspondence should be addressed.
Received: 24 November 2017 / Revised: 21 December 2017 / Accepted: 23 December 2017 / Published: 28 December 2017
(This article belongs to the Special Issue Epigenetics of Neurodevelopmental Disorders)
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Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX, two interacting chromatin modifier responsible respectively for 56–75% and 5–8% of the cases. To date, three KS patients with mosaic KMT2D deletions in blood lymphocytes have been described. We report on three additional subjects displaying KMT2D gene mosaics including one in which a single nucleotide change results in a new frameshift mutation (p.L1199HfsX7), and two with already-known nonsense mutations (p.R4484X and p.R5021X). Consistent with previously published cases, mosaic KMT2D mutations may result in mild KS facial dysmorphisms and clinical and neurobehavioral features, suggesting that these characteristics could represent the handles for genetic testing of individuals with slight KS-like traits. View Full-Text
Keywords: kabuki syndrome; KMT2D/MLL2; mosaicism; developmental delay kabuki syndrome; KMT2D/MLL2; mosaicism; developmental delay

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Lepri, F.R.; Cocciadiferro, D.; Augello, B.; Alfieri, P.; Pes, V.; Vancini, A.; Caciolo, C.; Squeo, G.M.; Malerba, N.; Adipietro, I.; Novelli, A.; Sotgiu, S.; Gherardi, R.; Digilio, M.C.; Dallapiccola, B.; Merla, G. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. Int. J. Mol. Sci. 2018, 19, 82.

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