KDM6A point mutations cause Kabuki syndrome.
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.
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. nmiyake@yokohama-cu.ac.jp
Noriko
N
Miyake
Seiji
S
Mizuno
Nobuhiko
N
Okamoto
Hirofumi
H
Ohashi
Masaaki
M
Shiina
Kazuhiro
K
Ogata
Yoshinori
Y
Tsurusaki
Mitsuko
M
Nakashima
Hirotomo
H
Saitsu
Norio
N
Niikawa
Naomichi
N
Matsumoto
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005145:Face / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006402:Hematologic Diseases / Q000473:pathology; D056466:Histone Demethylases / Q000235:genetics*; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D017354:Point Mutation; D017384:Sequence Deletion; D013577:Syndrome; D015837:Vestibular Diseases / Q000473:pathology; D055815:Young Adult
D018389:Codon, Nonsense; D009687:Nuclear Proteins; D056466:Histone Demethylases; C523998:KDM6A protein, human