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

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins
DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins
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
0340-6199
207-213
Laborie, Lene Bjerke
32d3d334-ff40-4129-af7a-9621c1390de6
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Molven, Anders
aa2d177f-3c3b-41a2-b14f-0c7e91784679
Søvik, Oddmund
412edfb9-a858-4a72-99ae-c48a6f2ea12d
Njølstad, Pål Rasmus
b4a52980-6f04-4695-b2c8-b751a519d198
Laborie, Lene Bjerke
32d3d334-ff40-4129-af7a-9621c1390de6
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Molven, Anders
aa2d177f-3c3b-41a2-b14f-0c7e91784679
Søvik, Oddmund
412edfb9-a858-4a72-99ae-c48a6f2ea12d
Njølstad, Pål Rasmus
b4a52980-6f04-4695-b2c8-b751a519d198

Laborie, Lene Bjerke, Mackay, Deborah J.G., Temple, I. Karen, Molven, Anders, Søvik, Oddmund and Njølstad, Pål Rasmus (2010) DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. European Journal of Pediatrics, 169 (2), 207-213. (doi:10.1007/s00431-009-1008-y).

Record type: Article

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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Published date: February 2010

Identifiers

Local EPrints ID: 69804
URI: http://eprints.soton.ac.uk/id/eprint/69804
ISSN: 0340-6199
PURE UUID: c02a0696-7d20-41ee-a844-c0a15a316aac
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for I. Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

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Date deposited: 07 Dec 2009
Last modified: 26 Nov 2019 01:55

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Contributors

Author: Lene Bjerke Laborie
Author: I. Karen Temple ORCID iD
Author: Anders Molven
Author: Oddmund Søvik
Author: Pål Rasmus Njølstad

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