KDM6A point mutations cause Kabuki syndrome.

Abstract

Kabuki syndrome (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and intellectual disability. In 2010, MLL2 was identified as a causative gene. On the basis of published reports, 55-80% of KS cases can be explained by MLL2 abnormalities. Recently, de novo deletion of KDM6A has been reported in three KS patients, but point mutations of KDM6A have never been found. In this study, we investigated KDM6A in 32 KS patients without an MLL2 mutation. We identified two nonsense mutations and one 3-bp deletion of KDM6A in three KS cases. This is the first report of KDM6A point mutations associated with KS.

• Authors: Noriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, Hirofumi Ohashi, Masaaki Shiina, Kazuhiro Ogata, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Norio Niikawa, Naomichi Matsumoto
• Journal: Human mutation (Hum Mutat) Vol. 34 Issue 1 Pg. 108-10 (Jan 2013) ISSN: 1098-1004 [Electronic] United States
• PMID: 23076834 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2012 Wiley Periodicals, Inc.

Chemical References

• Codon, Nonsense
• Nuclear Proteins
• Histone Demethylases
• KDM6A protein, human

Topics

• Abnormalities, Multiple (genetics, pathology)
• Adolescent
• Base Sequence
• Codon, Nonsense
• DNA Mutational Analysis
• Face (abnormalities)
• Female
• Follow-Up Studies
• Genetic Predisposition to Disease (genetics)
• Hematologic Diseases (pathology)
• Histone Demethylases (genetics)
• Humans
• Male
• Nuclear Proteins (genetics)
• Point Mutation
• Sequence Deletion
• Syndrome
• Vestibular Diseases (pathology)
• Young Adult