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Mol Syndromol. 2013 Mar;4(3):152-6. doi: 10.1159/000346798. Epub 2013 Jan 30.

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

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  • 1Centre de génomique humaine, Faculté de médecine et pharmacie, Université Mohammed V Souissi, Trieste, Italy ; Département de génétique médicale, Institut National d'Hygiène, Trieste, Italy.

Abstract

Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, mental retardation, and immunological defects. Point mutations and large intragenic deletions and duplications of the mixed lineage leukemia 2 (MLL2) and exons deletions of lysine demethylase 6A (-KDM6A) genes have been identified as its underlying causes. We report on the first description of a Moroccan Kabuki syndrome patient with typical facial features, developmental delay, finger pads, and other anomalies carrying a novel splice site mutation in the MLL2 gene that produces a truncated and likely pathogenetic form of MLL2 protein.

KEYWORDS:

Kabuki syndrome; MLL2; Splicing mutation

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