Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome (KS ) is a rare genetic disease that causes developmental delay and congenital anomalies . Since the identification of MLL 2 mutations as the primary cause of KS , such mutations have been identified in 56 %-76 % of affected individuals , suggesting that there may be additional genes associated with KS . Here , we describe three KS individuals with de novo partial or complete deletions of an X chromosome gene , KDM 6 A , that encodes a histone demethylase that interacts with MLL 2 . Although KDM 6 A escapes X inactivation , we found a skewed X inactivation pattern , in which the deleted X chromosome was inactivated in the majority of the cells . This study identifies KDM 6 A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple -congenital -anomaly and intellectual -disability syndromes .

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