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

Damien Lederer, Bernard Grisart, Maria Cristina Digilio, Valérie Benoit, Marianne Crespin, Sophie Claire Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen-Dumoulin

Research output: Contribution to journalArticlepeer-review

Abstract

Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and congenital anomalies. Since the identification of MLL2 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, KDM6A, that encodes a histone demethylase that interacts with MLL2. Although KDM6A 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 KDM6A 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.

Original languageEnglish
Pages (from-to)119-124
Number of pages6
JournalAmerican Journal of Human Genetics
Volume90
Issue number1
DOIs
Publication statusPublished - Jan 13 2012

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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