KDM6A Point Mutations Cause Kabuki Syndrome.

TitleKDM6A Point Mutations Cause Kabuki Syndrome.
Publication TypeJournal Article
Year of Publication2013
AuthorsMiyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, Matsumoto N
JournalHum Mutat
Volume34
Issue1
Pagination108-10
Date Published2013 Jan
ISSN1098-1004
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.

DOI10.1002/humu.22229
Alternate JournalHum. Mutat.
Citation Key1212
PubMed ID23076834