Growth plate gene involment and isolated short stature.
Aggrecan
Children
Gene
Growth plate
Isolated short stature
SHOX
Journal
Endocrine
ISSN: 1559-0100
Titre abrégé: Endocrine
Pays: United States
ID NLM: 9434444
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
20
02
2020
accepted:
20
05
2020
pubmed:
7
6
2020
medline:
9
7
2021
entrez:
7
6
2020
Statut:
ppublish
Résumé
Short stature is a common clinical presentation, thus it is widely accepted that it is a polygenic trait. However, genome wide association and next generation sequencing studies have recently challenged this view, suggesting that many of the children classified as idiopathic short stature could instead have monogenic defects. Linear growth is determined primarily by chondrogenesis at the growth plate. This process results from chondrocyte proliferation, hypertrophy, and extracellular matrix secretion, and it is perfectly coordinated by complex networks of local paracrine and endocrine factors. Alterations in genes which control growth plate development can explain a large number of cases of isolated short stature, allowing an etiological diagnosis. We reviewed recent data on the genetic alterations in fundamental cellular processes, paracrine signaling, and cartilage matrix formation associated with impaired growth plate chondrogenesis. In particular we focused on growth plate gene involvement in nonsyndromic short stature. The identification of genetic basis of growth failure will have a significant impact on the care of children affected with short stature.
Identifiants
pubmed: 32504378
doi: 10.1007/s12020-020-02362-w
pii: 10.1007/s12020-020-02362-w
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
28-34Références
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