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.
