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Congenital imprinting disorders: application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management

Congenital imprinting disorders: application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management
Congenital imprinting disorders: application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management
Imprinting disorders (IDs) are a group of congenital diseases affecting growth, development and metabolism. They are caused by changes in the allele-specific regulation (“epigenetic mutation”) or in the genomic sequence (“genetic mutation”) of imprinted genes. Currently molecular tests in ID patients are generally restricted to single loci classically associated with the disease, but this approach limits diagnostic yield, because of the molecular and clinical heterogeneity between IDs. From the technical point of view, these limitations are aggravated by the lack of standardization in testing methodology, in the DNA sequences tested, and in clinical inclusion criteria prompting testing.

However, an increasing number of new studies show that these problems can be addressed by the use of new tests targeting multiple loci and/or a total exome and genome analysis.

The rapid development of efficient and high-throughput molecular techniques and their applications in research and diagnostics in the last decade have led to an impressive increase of knowledge on IDs and their basic pathomechanisms. In combination with the improvement of data recording and documentation, the diagnostic strategies are increasingly based on standardized protocols, and thereby provide the backbone for directed counseling, more personalized management, and new therapeutic approaches.
imprinting disorders, methylation-specific assay, multilocus imprinting analysis, high throughput techniques
0890-8508
282-290
Soellner, Lukas
fbe27c7e-46ea-4533-95a9-44a8d6f8f89d
Monk, David
3afd0958-2e57-4135-a20a-462f59dce4d5
Rezwan, Faisal I.
203f8f38-1f5d-485b-ab11-c546b4276338
Begemann, Matthias
e6e9fa94-7d5c-4a79-86b4-6e17e685f433
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f
Soellner, Lukas
fbe27c7e-46ea-4533-95a9-44a8d6f8f89d
Monk, David
3afd0958-2e57-4135-a20a-462f59dce4d5
Rezwan, Faisal I.
203f8f38-1f5d-485b-ab11-c546b4276338
Begemann, Matthias
e6e9fa94-7d5c-4a79-86b4-6e17e685f433
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f

Soellner, Lukas, Monk, David, Rezwan, Faisal I., Begemann, Matthias, Mackay, Deborah and Eggermann, Thomas (2015) Congenital imprinting disorders: application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management. Molecular and Cellular Probes, 29 (5), 282-290. (doi:10.1016/j.mcp.2015.05.003). (PMID:26070988)

Record type: Article

Abstract

Imprinting disorders (IDs) are a group of congenital diseases affecting growth, development and metabolism. They are caused by changes in the allele-specific regulation (“epigenetic mutation”) or in the genomic sequence (“genetic mutation”) of imprinted genes. Currently molecular tests in ID patients are generally restricted to single loci classically associated with the disease, but this approach limits diagnostic yield, because of the molecular and clinical heterogeneity between IDs. From the technical point of view, these limitations are aggravated by the lack of standardization in testing methodology, in the DNA sequences tested, and in clinical inclusion criteria prompting testing.

However, an increasing number of new studies show that these problems can be addressed by the use of new tests targeting multiple loci and/or a total exome and genome analysis.

The rapid development of efficient and high-throughput molecular techniques and their applications in research and diagnostics in the last decade have led to an impressive increase of knowledge on IDs and their basic pathomechanisms. In combination with the improvement of data recording and documentation, the diagnostic strategies are increasingly based on standardized protocols, and thereby provide the backbone for directed counseling, more personalized management, and new therapeutic approaches.

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Accepted/In Press date: 5 May 2015
e-pub ahead of print date: 10 June 2015
Published date: October 2015
Keywords: imprinting disorders, methylation-specific assay, multilocus imprinting analysis, high throughput techniques
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 378058
URI: http://eprints.soton.ac.uk/id/eprint/378058
ISSN: 0890-8508
PURE UUID: 233a979f-ce32-4188-8966-b6fb22a50d27
ORCID for Faisal I. Rezwan: ORCID iD orcid.org/0000-0001-9921-222X
ORCID for Deborah Mackay: ORCID iD orcid.org/0000-0003-3088-4401

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Date deposited: 24 Jun 2015 13:43
Last modified: 18 Feb 2021 16:52

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Contributors

Author: Lukas Soellner
Author: David Monk
Author: Faisal I. Rezwan ORCID iD
Author: Matthias Begemann
Author: Deborah Mackay ORCID iD
Author: Thomas Eggermann

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