Studies of rare growth disorders taken together with large-scale genetic studies of adult height variability have uncovered a large genetic network regulating childhood growth. Advances in technology and experimental model systems will help decipher the molecular mechanisms of this complex network and lead to novel treatment approaches for growth disorders.
This is a preview of subscription content, access via your institution
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Baron, J. et al. Short and tall stature: a new paradigm emerges. Nat. Rev. Endocrinol. 11, 735–746 (2015).
Wood, A. R. et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat. Genet. 46, 1173–1186 (2014).
MacLean, H. E. & Kronenberg, H. M. Expression of Stra13 during mouse endochondral bone development. Gene Expr. Patterns 4, 633–636 (2004).
Marouli, E. et al. Rare and low-frequency coding variants alter human adult height. Nature 542, 186–190 (2017).
Tatton-Brown, K. et al. Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability. Am. J. Hum. Genet. 100, 725–736 (2017).
Imagawa, E. et al. Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Hum. Mutat. 38, 637–648 (2017).
Lui, J. C. et al. Ezh2 mutations found in the Weaver overgrowth syndrome cause a partial loss of H3K27 histone methyltransferase activity. J. Clin. Endocrinol. Metab. http://dx.doi.org/10.1210/jc.2017-01948 (2017).
Lui, J. C. et al. EZH1 and EZH2 promote skeletal growth by repressing inhibitors of chondrocyte proliferation and hypertrophy. Nat. Commun. 7, 13685 (2016).
Mirzamohammadi, F. et al. Polycomb repressive complex 2 regulates skeletal growth by suppressing Wnt and TGF-β signalling. Nat. Commun. 7, 12047 (2016).
Montalbano, A. et al. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Mol. Med. 8, 1455–1469 (2016).
Acknowledgements
The work of O.N. was supported by grants from the Swedish Research Council (project K2015-54X-22 736-01-4 and 2015-02227), the Swedish Governmental Agency for Innovation Systems (Vinnova) (2014-01438), the Marianne and Marcus Wallenberg Foundation, the Stockholm County Council, Byggmästare Olle Engkvist Stiftelse, the Swedish Society of Medicine, the Novo Nordisk Foundation (grant NNF16OC0021508), the Erik och Edith Fernström Foundation for Medical Research, HKH Kronprinsessan Lovisas förening för barnasjukvård, Sällskapet Barnavård, Stiftelsen Frimurare Barnhuset i Stockholm, Karolinska Institutet, Stockholm, Sweden and Örebro University, Örebro, Sweden.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
O.N. has received speakers' honoraria from Lilly, Merck Serono and Pfizer, and research support from the Novo Nordisk Foundation.
PowerPoint slides
Rights and permissions
About this article
Cite this article
Nilsson, O. Genetic and epigenetic regulation of childhood growth. Nat Rev Endocrinol 14, 70–72 (2018). https://doi.org/10.1038/nrendo.2017.178
Published:
Issue Date:
DOI: https://doi.org/10.1038/nrendo.2017.178