Human Genetics

, Volume 110, Issue 2, pp 139–144

Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus

  • D. Mackay
  • A.-M. Coupe
  • J. Shield
  • J. Storr
  • I. Temple
  • D. Robinson
Original Investigation

DOI: 10.1007/s00439-001-0671-5

Cite this article as:
Mackay, D., Coupe, AM., Shield, J. et al. Hum Genet (2002) 110: 139. doi:10.1007/s00439-001-0671-5

Abstract.

Transient neonatal diabetes mellitus (TNDM) is a rare disease believed to result from overexpression of a paternally expressed gene controlled by a differentially methylated CpG island on chromosome 6q24. Two genes partially overlap the island: the cell-cycle-control gene ZAC and the untranslated gene HYMAI, the function of which is currently unknown. Proof that either gene is involved in TNDM would require demonstration that imprinted expression is relaxed in TNDM patients; this has hitherto been lacking because of the rarity of the disease and the lack of imprinted expression in the lymphoblastoid cells that are generally the only resource available for study. Here, we show, for the first time, the aberrant expression of imprinted genes in a TNDM patient. In TNDM fibroblasts, the monoallelic expression of both ZAC and HYMAI is relaxed, providing strong supportive evidence that the presence of two unmethylated alleles of this locus is indeed associated with the inappropriate gene expression of neighbouring genes.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • D. Mackay
    • 1
  • A.-M. Coupe
    • 1
  • J. Shield
    • 3
  • J. Storr
    • 4
  • I. Temple
    • 5
  • D. Robinson
    • 1
  1. 1.Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UKUK
  2. 2.Human Genetics Research Division, University of Southampton, Southampton, UKUK
  3. 3.Institute of Child Health, Upper Maudlin Street, Bristol, BS2 8BJ, UKUK
  4. 4.Department of Paediatrics, Cumberland Infirmary, Carlisle, Cumbria, CA2 7HY, UKUK
  5. 5.Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton, SO16 5YA, UKUK

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