KDM 6 A  Point Mutations Cause  K abuki Syndrome | Zendy

Miyake Noriko | Zendy; Mizuno Seiji | Zendy; Okamoto Nobuhiko | Zendy; Ohashi Hirofumi | Zendy; Shiina Masaaki | Zendy; Ogata Kazuhiro | Zendy; Tsurusaki Yoshinori | Zendy; Nakashima Mitsuko | Zendy; Saitsu Hirotomo | Zendy; Niikawa Norio | Zendy; Matsumoto Naomichi | Zendy

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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 .

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