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01-02-2010 | Original Paper

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

Authors: Lene Bjerke Laborie, Deborah J. G. Mackay, I. Karen Temple, Anders Molven, Oddmund Søvik, Pål Rasmus Njølstad

Published in: European Journal of Pediatrics | Issue 2/2010

Abstract

One known genetic mechanism for transient neonatal diabetes is loss of methylation at 6q24. The etiology of prune belly sequence is unknown but a genetic defect, affecting the mesoderm from which the triad abdominal muscle hypoplasia, urinary tract abnormalities, and cryptorchidism develop, has been suggested. We investigated a family, including one twin, with transient neonatal diabetes and prune belly sequence. Autoantibody tests excluded type 1 diabetes. Microsatellite marker analysis confirmed the twins being monozygotic. We identified no mutations in ZFP57, KCNJ11, ABCC8, GCK, HNF1A, HNF1B, HNF3B, IPF1, PAX4, or ZIC3. The proband had loss of methylation at the 6q24 locus TNDM and also at the loci IGF2R, DIRAS3, and PEG1, while the other family members, including the healthy monozygotic twin, had normal findings. The loss of methylation on chromosome 6q24 and elsewhere may indicate a generalized maternal hypomethylation syndrome, which accounts for both transient neonatal diabetes and prune belly sequence.

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Title: DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins
Authors: Lene Bjerke Laborie
Deborah J. G. Mackay
I. Karen Temple
Anders Molven
Oddmund Søvik
Pål Rasmus Njølstad
Publication date: 01-02-2010
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 2/2010
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-009-1008-y

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DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

Abstract

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