J Med Genet 44:637-640 doi:10.1136/jmg.2007.050807
  • Short report

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

  1. I K Temple1,2,
  2. V Shrubb3,
  3. M Lever4,
  4. H Bullman4,
  5. D J G Mackay1,4
  1. 1Division of Human Genetics, University of Southampton, Southampton, Hampshire, UK
  2. 2Wessex Genetics Service, Southampton University Hospitals Trust, Southampton, Hampshire, UK
  3. 3Department of Community Child Health, Southampton Community Trust, Southampton, Hampshire, UK
  4. 4Wessex Regional Genetics Laboratory, Salisbury Health Care Trust, Salisbury, Hampshire, UK
  1. Correspondence to:
 I K Temple
 Division of Human Genetics, Princess Anne Hospital, Coxford Road, Southampton, Hants SO31 8DA; ikt{at}
  • Received 3 April 2007
  • Accepted 14 June 2007
  • Revised 13 June 2007
  • Published Online First 29 June 2007


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.


  • Competing interests: None declared.

    Funding: DJGM was funded by Diabetes UK.

  • Parental informed consent was obtained for the publication of this case report.

  • Published Online First 29 June 2007