Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.
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.
Temple
I K
IK
Division of Human Genetics, University of Southampton, Southampton, Hampshire, UK. ikt@soton.ac.uk
Shrubb
V
V
Lever
M
M
Bullman
H
H
Mackay
D J G
DJ
D000818:Animals; D002135:Calcium-Binding Proteins; D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D019175:DNA Methylation; D004330:Drosophila; D018392:Genomic Imprinting; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008745:Methylation; D018895:Microsatellite Repeats; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D062085:RNA, Long Noncoding; D024182:Uniparental Disomy
D002135:Calcium-Binding Proteins; C512941:DLK1 protein, human; D036341:Intercellular Signaling Peptides and Proteins; C498907:MEG3 non-coding RNA, human; D008565:Membrane Proteins; D011506:Proteins; D062085:RNA, Long Noncoding