Genetic regulation of linear growth
- Author:
Shanna YUE
1
;
Philip WHALEN
;
Youn Hee JEE
Author Information
- Publication Type:Review
- Keywords: Linear growth; Genome-wide association study; Next generation sequencing; Short stature
- MeSH: Child; Diagnosis; Epigenomics; Extracellular Matrix; Genetic Counseling; Genome-Wide Association Study; Growth Disorders; Growth Plate; Humans; Paracrine Communication; Polymorphism, Single Nucleotide
- From:Annals of Pediatric Endocrinology & Metabolism 2019;24(1):2-14
- CountryRepublic of Korea
- Language:English
- Abstract: Linear growth occurs at the growth plate. Therefore, genetic defects that interfere with the normal function of the growth plate can cause linear growth disorders. Many genetic causes of growth disorders have already been identified in humans. However, recent genome-wide approaches have broadened our knowledge of the mechanisms of linear growth, not only providing novel monogenic causes of growth disorders but also revealing single nucleotide polymorphisms in genes that affect height in the general population. The genes identified as causative of linear growth disorders are heterogeneous, playing a role in various growth-regulating mechanisms including those involving the extracellular matrix, intracellular signaling, paracrine signaling, endocrine signaling, and epigenetic regulation. Understanding the underlying genetic defects in linear growth is important for clinicians and researchers in order to provide proper diagnoses, management, and genetic counseling, as well as to develop better treatment approaches for children with growth disorders.
