Background: Transient neonatal diabetes (TND) is a rare form of diabetes usually present in the first few days after birth that resolves within 1 year but that has a tendency to recur later in life. It can be associated with chromosome 6 paternal uniparental disomy (UPD), paternal duplications or loss of maternal methylation at the 6q24 imprinted locus.
Objective: To report on a cohort of 13 sporadic TND cases, including five with birth defects (congenital abnormalities of heart, brain and bone) and eight without.
Results: The hallmarks of diabetes were similar in patients with or without 6q24 defects. The chromosome 6 abnormalities in our patients (n = 13) included 2 of 13 (approximately 15.4%) cases of paternal UPD6, 2 of 11 (approximately 18%) cases of complete and 3 of 11 (approximately 27%) cases of partial loss of the maternal methylation signature upstream of ZAC1-HYMAI imprinted genes in non-UPD cases, and 1 of 13 (approximately 7.7%) cases of hemizygotic deletion.
Conclusion: The deletion was found in a patient with severe congenital abnormalities. This genetic lesion was not reported previously. The hypothesis of an effect on regulatory elements critical for imprinting and tissue-specific gene expression in early development by the deletion is raised. The data presented here may contribute to the diagnosis and the understanding of imprinting in the region.
- CGi, CpG islands
- DMR, differentially methylated region
- ICE, imprinting control element
- PCR, polymerase chain reaction
- TND, transient neonatal diabetes
- UPD, uniparental disomy
- transient neonatal diabetes
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↵* CNRS. GM holds a PhD fellowship from the Ministère de l’Education Nationale de la Recherche et de la Technologie and Université Pierre et Marie Curie, Paris 6.
Published Online First 13 September 2006
Funding: This work was supported by grants from the Institut National de la Santé et de la Recherche Médicale (Inserm) and the Association Aide aux Jeunes Diabètiques (AJD).
Competing interests: None.