Report of the first clinical case of a moroccan kabuki patient with a novel MLL2 mutation

I. Ratbi, N. Fejjal, L. Micale, B. Augello, C. Fusco, J. Lyahyai, G. Merla, A. Sefiani

Research output: Contribution to journalArticle


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.

Original languageEnglish
Pages (from-to)152-156
Number of pages5
JournalMolecular Syndromology
Issue number3
Publication statusPublished - Mar 2013



  • Kabuki syndrome
  • MLL2
  • Splicing mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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