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 "rare genetic disease" symptom

achondroplasia

coats disease

cystinuria

epidermolysis bullosa simplex

fabry disease

kabuki syndrome

lymphangioleiomyomatosis

pendred syndrome

proteus syndrome

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