New p57KIP2 mutations in Beckwith-Wiedemann syndrome.
Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15.5 region, as determined by linkage analysis of autosomal dominant pedigrees. The increased maternal transmission pattern seen in the autosomal dominant-type pedigrees and the findings of paternal uniparental disomy reported for a subgroup of patients indicate that the gene for BWS is imprinted. Previously, we found p57KIP2, which is a Cdk-kinase inhibitor located at 11p15, is mutated in two BWS patients. Here, we screened for the mutation of the gene in 15 BWS patients.
Hatada
I
I
National Cardiovascular Center Research Institute, Osaka, Japan. hatada@ri.ncvc.go.jp
Nabetani
A
A
Morisaki
H
H
Xin
Z
Z
Ohishi
S
S
Tonoki
H
H
Niikawa
N
N
Inoue
M
M
Komoto
Y
Y
Okada
A
A
Steichen
E
E
Ohashi
H
H
Fukushima
Y
Y
Nakayama
M
M
Mukai
T
T
D001317:Austria; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D050761:Cyclin-Dependent Kinase Inhibitor p57; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
C493964:CDKN1C protein, human; D050761:Cyclin-Dependent Kinase Inhibitor p57; D009687:Nuclear Proteins