ESPE Abstracts (2021) 94 S6.1

ESPE2021 Symposia Bone Formation: The Growth Plate and Beyond (2 abstracts)

Epigenetic regulation of the growth plate

Julian Lui


Section on Growth and Development, National Institute of Child Health and Human Development, NIH, Bethesda, USA


Longitudinal growth is driven by endochondral ossification at the growth plate, where chondrocytes undergo a well-organized cellular differentiation process from stem-like progenitors to rapidly-proliferating transit-amplifying cells and to hypertrophic chondrocytes. Numerous recent studies have demonstrated that epigenetic modifications play a crucial role in human development and childhood growth. For example, Brachydactyly mental retardation syndrome (BDMR) is caused by haploinsufficiency of histone deacetylase HDAC4, while a triad of phenotypically similar human overgrowth syndromes is caused by genetic variants affecting histone and DNA methylation: mutations in H3K27 histone methyltransferase EZH2 cause Weaver syndrome; mutations in H3K36 histone methyltransferase cause Sotos syndrome; and mutations in DNA methyltransferase DNMT3A cause Tatton-Brown-Rahman syndrome. In this paper, we will discuss how these recent advances may provide us with important insights into growth plate biology and their clinical implications in childhood growth disorders.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.

My recently viewed abstracts