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Kabuki Syndrome—Clinical Review with Molecular Aspects

Department of Medical Genetics, Medical University, Pawinskiego 3c, 02-106 Warsaw, Poland
Mossakowski Medical Research Center, Department of Experimental and Clinical Neuropathology, Polish Academy of Sciences, 02-106 Warsaw, Poland
Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Medical University, 51-618 Wroclaw, Poland
Author to whom correspondence should be addressed.
Academic Editors: Livia Garavelli, Stefano Giuseppe Caraffi and Irmgard Irminger-Finger
Genes 2021, 12(4), 468;
Received: 24 February 2021 / Revised: 14 March 2021 / Accepted: 16 March 2021 / Published: 25 March 2021
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, including autistic features. De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of KS and account for up to 75% of patients. Variants in KDM6A cause up to 5% of cases (X-linked dominant inheritance), while the etiology of about 20% of cases remains unknown. Current KS diagnostic criteria include hypotonia during infancy, developmental delay and/or intellectual disability, typical dysmorphism and confirmed pathogenic/likely pathogenic variant in KMT2D or KDM6A. Care for KS patients includes the control of physical and psychomotor development during childhood, rehabilitation and multi-specialist care. This paper reviews the current clinical knowledge, provides molecular and scientific links and sheds light on the treatment of Kabuki syndrome individuals. View Full-Text
Keywords: Kabuki syndrome; KMT2D; KDM6A; mechanism; treatment Kabuki syndrome; KMT2D; KDM6A; mechanism; treatment
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MDPI and ACS Style

Boniel, S.; Szymańska, K.; Śmigiel, R.; Szczałuba, K. Kabuki Syndrome—Clinical Review with Molecular Aspects. Genes 2021, 12, 468.

AMA Style

Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Kabuki Syndrome—Clinical Review with Molecular Aspects. Genes. 2021; 12(4):468.

Chicago/Turabian Style

Boniel, Snir, Krystyna Szymańska, Robert Śmigiel, and Krzysztof Szczałuba. 2021. "Kabuki Syndrome—Clinical Review with Molecular Aspects" Genes 12, no. 4: 468.

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