Format

Send to

Choose Destination
Hum Genet. 1997 Oct;100(5-6):681-3.

New p57KIP2 mutations in Beckwith-Wiedemann syndrome.

Author information

1
National Cardiovascular Center Research Institute, Osaka, Japan. hatada@ri.ncvc.go.jp

Abstract

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.

PMID:
9341892
DOI:
10.1007/s004390050573
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center