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Ongoing research is revealing the complexities of imprinting disorders, a group of congenital diseases which affect growth, development and neoplasia risk [Mackay D, 2022]. These conditions are caused by genetic or epigenetic changes to genes that are expressed from only one parental allele and can results from changes in coding sequences, copy number changes, uniparental disomy or imprinting defects [Mackay D, 2022]. Specifically, imprinting disorders are characterized by molecular alterations affecting differentially methylated regions (DMR) [Eggermann T, 2022]. Individuals with a particular imprinting disorder, in general, have a single specific affected DMR, but individuals can have multi-locus imprinting disturbances (MLID) [Eggermann T, 2022]. Individual imprinting disorders, such as Prader-Willi syndrome, Angelman syndrome, Silver-Russell syndrome and Beckwith-Wiedemann syndrome, have similar clinical features but are heterogeneous, with key clinical manifestations often non-specific, making diagnosis difficult [Eggermann T, 2023]. Research is ongoing into the regulation within DMRs and their functional consequences as well as the cross-talk between imprinted genes and functional pathways.
At the end of the podcast, learners should be able to:
Paediatricians working in growth disorder management, general practitioners and specialist growth disorder nurses.
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Imprinting Disorders: A Clinical Guide
Martin Savage is Emeritus Professor of Paediatric Endocrinology at William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary, University of London. He was head of the Paediatric Endocrine Unit at Barts and the London School of Medicine from 1982 to 2007. He has interests in growth disorders, specifically those with abnormalities in the GH-IGF-1 axis and in phenotype-genotype relationships of GH-IGF-1 axis defects, notably GH resistance. He published the first human case of an IGF-1 gene defect in the New England Journal of Medicine in 1996. His other interests are Cushing’s syndrome and growth in chronic inflammatory diseases. He was General Secretary of the European Society for Paediatric Endocrinology (ESPE) from 1997 to 2004. He has lectured in 60 countries and has published 482 original articles, reviews, textbook chapters and books. In 2007, he was awarded the ESPE Andrea Prader Prize for contributions to paediatric endocrinology and in 2018 he received a Visionary Award from the American Human Growth Foundation. In 2022, he received a Research Excellence Award from the Dr Sulaiman Al Habib Medical Journal in Riyadh, and the British Society of Paediatric Endocrinology & Diabetes James M. Tanner Lifetime Achievement Award. He continues to lecture nationally and internationally.
Justin Davies is Professor of Paediatric Endocrinology at the University of Southampton, UK. Prof Davies research interests include growth and imprinting disorders (including Silver-Russell and Temple syndrome), secondary osteoporosis and care for children with differences of sex development. He Co-Chairs the British Society of Paediatric Endocrinology and Diabetes Growth Disorders Special Interest Group, and is developing a standardised national approach to growth assessment and management of growth hormone deficiency.
He is Chair of the international – DSD care quality committee. Prof Davies is member of the national NHS England service specification working group– developing national policy to optimise paediatric endocrine services and improve care. He is a Senior Editor for Endocrine Connections. Prof Davies leads the European Society for Paediatric Endocrinology, Winter School. He is a past Chair of the British Society of Paediatric Endocrinology and Diabetes 2016-2020.
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