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

[kabuki syndrome]

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 (MLL 2 ) and exons deletions of lysine demethylase 6 A (-KDM 6 A ) 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 MLL 2 gene that produces a truncated and likely pathogenetic form of MLL 2 protein .

Diseases
Validation

Diseases presenting "developmental delay" symptom

22q11.2 deletion syndrome

achondroplasia

alexander disease

alpha-thalassemia

aniridia

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

gm1 gangliosidosis

harlequin ichthyosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated