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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
We have previously described individuals presenting with transient neonatal diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci throughout the genome. We now report mutations in ZFP57, which encodes a zinc-finger transcription factor expressed in early development, in seven pedigrees with a shared pattern of mosaic hypomethylation and a conserved range of clinical features. This is the first description of a heritable global imprinting disorder that is compatible with life.
report, laboratories, dna, pedigree, mutation, genome, human, diabetes, genetics
1061-4036
949-951
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Callaway, Jonathan L.A.
52ebaa48-83d6-4270-ad74-666f70264f29
Marks, Sophie M.
ba81fa8d-5c4f-4384-b029-bd5ea6460cae
White, Helen E.
2181c0b9-fc3b-407e-95eb-3510524603e5
Acerini, Carlo L.
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Boonen, Susanne E.
635ea5a0-76e3-4b60-bd4e-b9dd8998022c
Dayanikli, Pinar
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Firth, Helen V.
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Goodship, Judith A.
033ac310-b737-467f-a5e0-8c2c4bbe8551
Haemers, Andreas P.
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Hahnemann, Johanne M.D.
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Kordonouri, Olga
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Masoud, Ahmed F.
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Oestergaard, Elsebet
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Storr, John
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Ellard, Sian
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Hattersley, Andrew T.
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Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Callaway, Jonathan L.A.
52ebaa48-83d6-4270-ad74-666f70264f29
Marks, Sophie M.
ba81fa8d-5c4f-4384-b029-bd5ea6460cae
White, Helen E.
2181c0b9-fc3b-407e-95eb-3510524603e5
Acerini, Carlo L.
3eb5e458-9086-48a1-99a8-d7f1a31fc474
Boonen, Susanne E.
635ea5a0-76e3-4b60-bd4e-b9dd8998022c
Dayanikli, Pinar
d090c2a3-2b82-4808-a177-597835f9414e
Firth, Helen V.
68d49660-2394-45e2-a690-c6583c4590dd
Goodship, Judith A.
033ac310-b737-467f-a5e0-8c2c4bbe8551
Haemers, Andreas P.
9ddca0f9-f39f-4e35-bead-c152072b7cae
Hahnemann, Johanne M.D.
62ac6788-908f-410b-a825-96cc9c91abc1
Kordonouri, Olga
0e443ce7-c158-44d4-9b36-2f8cbc04a44c
Masoud, Ahmed F.
207da631-9d6a-41ab-a94b-1158eadd3095
Oestergaard, Elsebet
880b61da-a431-44cd-9a33-01271f48d601
Storr, John
ad558a3b-d79b-48a1-b4b7-66209a2697ec
Ellard, Sian
6c9b0ede-8980-4602-b063-444b165baa09
Hattersley, Andrew T.
429254b8-e75b-46bd-a6f6-274130336b0d
Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226

Mackay, Deborah J.G., Callaway, Jonathan L.A., Marks, Sophie M., White, Helen E., Acerini, Carlo L., Boonen, Susanne E., Dayanikli, Pinar, Firth, Helen V., Goodship, Judith A., Haemers, Andreas P., Hahnemann, Johanne M.D., Kordonouri, Olga, Masoud, Ahmed F., Oestergaard, Elsebet, Storr, John, Ellard, Sian, Hattersley, Andrew T., Robinson, David O. and Temple, I. Karen (2008) Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nature Genetics, 40 (8), 949-951. (doi:10.1038/ng.187).

Record type: Article

Abstract

We have previously described individuals presenting with transient neonatal diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci throughout the genome. We now report mutations in ZFP57, which encodes a zinc-finger transcription factor expressed in early development, in seven pedigrees with a shared pattern of mosaic hypomethylation and a conserved range of clinical features. This is the first description of a heritable global imprinting disorder that is compatible with life.

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More information

Published date: August 2008
Keywords: report, laboratories, dna, pedigree, mutation, genome, human, diabetes, genetics
Organisations: Medicine

Identifiers

Local EPrints ID: 60010
URI: http://eprints.soton.ac.uk/id/eprint/60010
ISSN: 1061-4036
PURE UUID: eda54e2f-aa80-4197-8eee-bdf06f2e7c6f
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

Catalogue record

Date deposited: 27 Oct 2008
Last modified: 17 Dec 2019 01:54

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Contributors

Author: Jonathan L.A. Callaway
Author: Sophie M. Marks
Author: Helen E. White
Author: Carlo L. Acerini
Author: Susanne E. Boonen
Author: Pinar Dayanikli
Author: Helen V. Firth
Author: Judith A. Goodship
Author: Andreas P. Haemers
Author: Johanne M.D. Hahnemann
Author: Olga Kordonouri
Author: Ahmed F. Masoud
Author: Elsebet Oestergaard
Author: John Storr
Author: Sian Ellard
Author: Andrew T. Hattersley
Author: David O. Robinson
Author: I. Karen Temple ORCID iD

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