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Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14 (UPD14) are attributed to dysregulation of imprinted genes. A large candidate locus exists within 14q32, under the regulation of a paternally methylated intergenic differentially methylated region (IG-DMR). We present a patient with clinical features of maternal UPD14, including growth retardation, hypotonia, scoliosis, small hands and feet, and advanced puberty, who had loss of methylation of the IG-DMR with no evidence of maternal UPD14. This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32.
pair 14, humans, growth, uniparental disomy, genomic imprinting, dna methylation, expression, drosophila, report, microsatellite repeats, chromosomes, intercellular signaling peptides and proteins, hand, puberty, protein, genetics, mutation, human, proteins, male, hypothesis, gene expression, animals, peptides, methylation, phenotype, membrane proteins, genes, child
0022-2593
637-640
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Shrubb, V.
5345525d-6ed6-4c1f-b565-9abeaf7dd37c
Lever, M.
4e322ec3-7007-4b49-9ba1-6006e4167146
Bullman, H.
75ccf2b2-5a55-4b89-be72-19b43683aaf8
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Shrubb, V.
5345525d-6ed6-4c1f-b565-9abeaf7dd37c
Lever, M.
4e322ec3-7007-4b49-9ba1-6006e4167146
Bullman, H.
75ccf2b2-5a55-4b89-be72-19b43683aaf8
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a

Temple, I.K., Shrubb, V., Lever, M., Bullman, H. and Mackay, D.J. (2007) Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. Journal of Medical Genetics, 44 (10), 637-640. (doi:10.1136/jmg.2007.050807).

Record type: Article

Abstract

The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14 (UPD14) are attributed to dysregulation of imprinted genes. A large candidate locus exists within 14q32, under the regulation of a paternally methylated intergenic differentially methylated region (IG-DMR). We present a patient with clinical features of maternal UPD14, including growth retardation, hypotonia, scoliosis, small hands and feet, and advanced puberty, who had loss of methylation of the IG-DMR with no evidence of maternal UPD14. This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32.

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More information

Published date: 2007
Keywords: pair 14, humans, growth, uniparental disomy, genomic imprinting, dna methylation, expression, drosophila, report, microsatellite repeats, chromosomes, intercellular signaling peptides and proteins, hand, puberty, protein, genetics, mutation, human, proteins, male, hypothesis, gene expression, animals, peptides, methylation, phenotype, membrane proteins, genes, child

Identifiers

Local EPrints ID: 60300
URI: http://eprints.soton.ac.uk/id/eprint/60300
ISSN: 0022-2593
PURE UUID: b1133210-21dd-44c6-81fd-8d4ce195b9a7
ORCID for I.K. Temple: ORCID iD orcid.org/0000-0002-6045-1781
ORCID for D.J. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 19 Nov 2019 01:53

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Contributors

Author: I.K. Temple ORCID iD
Author: V. Shrubb
Author: M. Lever
Author: H. Bullman
Author: D.J. Mackay ORCID iD

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