ESPE Abstracts (2019) 92 NA2

Genomic Imprinting Analysis in Clinical Practice

Deborah Mackay


University of Southampton, Southampton, United Kingdom


Genomic imprints in humans are epigenetic marks inscribed upon our genomes from the earliest stages of our development, forming a permanent memory of our parental origin. Approximately 1% of human genes are imprinted, with expression that is permanently restricted to either the paternal or the maternal DNA. Genetic or epigenetic errors of imprinting cause a range of imprinting disorders, each with distinctive effects upon growth, development, metabolism and behaviour.

This talk will show how a clinician can approach diagnosis for a child with a suspected imprinting disorder, using as an example the growth restriction disorder Silver-Russell syndrome (SRS). The molecular diagnosis of imprinting disorders is complex and there is a need for close collaboration between the clinician and the genetics laboratory. I will illustrate the sequential approach that is required for molecular investigation to achieve diagnosis for an imprinting disorder, and in the process, I will explore their genetic and epigenetic causes, their clinical heterogeneity, and and the relationships between (epi)genotype, presentation, and prognosis.

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