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KDM 6 A Point Mutations Cause K abuki Syndrome
Author(s) -
Miyake Noriko,
Mizuno Seiji,
Okamoto Nobuhiko,
Ohashi Hirofumi,
Shiina Masaaki,
Ogata Kazuhiro,
Tsurusaki Yoshinori,
Nakashima Mitsuko,
Saitsu Hirotomo,
Niikawa Norio,
Matsumoto Naomichi
Publication year - 2013
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22229
Subject(s) - kabuki syndrome , biology , point mutation , genetics , nonsense mutation , mutation , kabuki , gene , nonsense , intellectual disability , missense mutation , art , visual arts
K abuki syndrome ( KS ) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and intellectual disability. In 2010, MLL 2 was identified as a causative gene. On the basis of published reports, 55–80% of KS cases can be explained by MLL 2 abnormalities. Recently, de novo deletion of KDM 6 A has been reported in three KS patients, but point mutations of KDM 6 A have never been found. In this study, we investigated KDM 6 A in 32 KS patients without an MLL 2 mutation. We identified two nonsense mutations and one 3‐bp deletion of KDM 6 A in three KS cases. This is the first report of KDM 6 A point mutations associated with KS .