Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Thomas Eggermann; Guiomar Perez de Nanclares; Eamonn R Maher; I Karen Temple; Zeynep Tümer; David Monk; Deborah J G Mackay; Karen Grønskov; Andrea Riccio; Agnès Linglart; Irène Netchine

doi:10.1186/s13148-015-0143-8

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Thomas Eggermann, Guiomar Perez de Nanclares, Eamonn R Maher, I Karen Temple, Zeynep Tümer, David Monk, Deborah J G Mackay, Karen Grønskov, Andrea Riccio, Agnès Linglart, Irène Netchine

Medical Genetics Program

84 Citations (Scopus)

Abstract

Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families.

Original language	English
Article number	123
Journal	Clinical Epigenetics (Print)
Volume	7
Pages (from-to)	1-18
Number of pages	18
ISSN	1868-7075
DOIs	https://doi.org/10.1186/s13148-015-0143-8
Publication status	Published - 14 Nov 2015

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Eggermann, T., Perez de Nanclares, G., Maher, E. R., Temple, I. K., Tümer, Z., Monk, D., Mackay, D. J. G., Grønskov, K., Riccio, A., Linglart, A., & Netchine, I. (2015). Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clinical Epigenetics (Print), 7, 1-18. Article 123. https://doi.org/10.1186/s13148-015-0143-8

Eggermann, T, Perez de Nanclares, G, Maher, ER, Temple, IK, Tümer, Z, Monk, D, Mackay, DJG, Grønskov, K, Riccio, A, Linglart, A & Netchine, I 2015, 'Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci', Clinical Epigenetics (Print), vol. 7, 123, pp. 1-18. https://doi.org/10.1186/s13148-015-0143-8

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abstract = "Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families.",

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AU - Eggermann, Thomas

AU - Perez de Nanclares, Guiomar

AU - Maher, Eamonn R

AU - Temple, I Karen

AU - Tümer, Zeynep

AU - Monk, David

AU - Mackay, Deborah J G

AU - Grønskov, Karen

AU - Riccio, Andrea

AU - Linglart, Agnès

AU - Netchine, Irène

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N2 - Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families.

AB - Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families.

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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

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