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

TitleReport of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.
Publication TypeJournal Article
Year of Publication2013
AuthorsRatbi I, Fejjal N, Micale L, Augello B, Fusco C, Lyahyai J, Merla G, Sefiani A
JournalMol Syndromol
Volume4
Issue3
Pagination152-6
Date Published2013 Mar
ISSN1661-8769
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.

DOI10.1159/000346798
Alternate JournalMol Syndromol
Citation Key1322
PubMed ID23653588