RT Journal Article
SR Electronic
T1 Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 637
OP 640
DO 10.1136/jmg.2007.050807
VO 44
IS 10
A1 Temple, I K
A1 Shrubb, V
A1 Lever, M
A1 Bullman, H
A1 Mackay, D J G
YR 2007
UL http://jmg.bmj.com/content/44/10/637.abstract
AB The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14 (UPD14) are attributed to dysregulation of imprinted genes. A large candidate locus exists within 14q32, under the regulation of a paternally methylated intergenic differentially methylated region (IG-DMR). We present a patient with clinical features of maternal UPD14, including growth retardation, hypotonia, scoliosis, small hands and feet, and advanced puberty, who had loss of methylation of the IG-DMR with no evidence of maternal UPD14. This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32.