Background: Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN gene, causing short stature and advanced bone age. Similarly, mutations in growth hormone receptors (GHR) can lead to Laron syndrome (LS), one of the several disorders that are collectively called growth hormone insensitivity syndrome (GHI). Another example is Floating-Harbor syndrome (FHS), a rare autosomal dominant due to mutations in the SRCAP gene that can also result in short stature.
CITATION STYLE
Mohammadian Khonsari, N., Mohammad Poor Nami, S., Hakak-Zargar, B., & Voth, T. (2020). Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report. Molecular and Cellular Pediatrics, 7(1). https://doi.org/10.1186/s40348-020-00104-6
Mendeley helps you to discover research relevant for your work.