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.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology